Gene Summary

Name:
c-src tyrosine kinase
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal neural tube closure Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo turning Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina vasculature morphology Csktm2b(EUCOMM)Hmgu HET   Early adult 5.05×10-06
preweaning lethality, complete penetrance Csktm2b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased total retina thickness Csktm2b(EUCOMM)Hmgu HET Early adult 3.19×10-08
abnormal embryo size Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo development Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Csktm2b(EUCOMM)Hmgu HOM   E12.5 0.00
abnormal retina inner nuclear layer morphology Csktm2b(EUCOMM)Hmgu HET   Early adult 5.68×10-09
embryonic growth retardation Csktm2b(EUCOMM)Hmgu HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote Ambiguous
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Eye Morphology

VIP of right eye

15 Images

MicroCT E9.5

Embryo reconstruction

3 Images

Eye Morphology

VIP of left fundus

15 Images

Adult LacZ

LacZ Images Wholemount

26 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Forepaw

12 Images

Human diseases caused by Csk mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Csk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Intellectual Developmental Disorder, Autosomal Recessive 25
Delayed speech and language development, Anxiety OMIM:614346
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Intellectual Developmental Disorder, X-Linked 63
Delayed speech and language development, Anxiety OMIM:300387
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Pick Disease Of Brain
Frontotemporal dementia, Diminished motivation, Emotional blunting, Echolalia, Apathy, Inappropri... OMIM:172700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Frontotemporal Dementia
Frontotemporal dementia, Diminished motivation, Frontal lobe dementia, Apathy, Dementia, Inapprop... OMIM:600274
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Impaired social... ORPHA:168782
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Dystonia 11, Myoclonic
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Absent speech, Anxiety OMIM:619031
Early-Onset Schizophrenia
Restlessness, Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Shyn... ORPHA:96369
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Epilepsy, Progressive Myoclonic, 12
Anxiety, Attention deficit hyperactivity disorder, Depression, Mental deterioration OMIM:619191
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Anxiety, Restlessness OMIM:603218
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... OMIM:618697
Huntington Disease-Like 2
Inertia, Anxiety, Apathy, Dementia, Depression, Subcortical dementia, Irritability, Memory impair... OMIM:606438
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Delayed speech and language development, Attention deficit hyperactivity disorder, Anxiety OMIM:618878
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Coloboma Of Macula
Macular coloboma OMIM:120300
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Inertia, Motor deterioration, Apathy, Dementia, ... ORPHA:412066
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Attention deficit hyperactivity disorder, Emotional labi... OMIM:617028
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... ORPHA:66624
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Lens subluxation, Congenital sensorineural hearing impairment, Fa... ORPHA:3456
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Fryns Microphthalmia Syndrome
Macrotia, Neural tube defect OMIM:600776
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta, Microcephaly ORPHA:64754
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Muscle-Eye-Brain Disease
Meningocele, Optic atrophy, Hydrocephalus, Holoprosencephaly, Cataract ORPHA:588
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Schisis Association
Spina bifida, Anencephaly, Encephalocele, Microcephaly ORPHA:63862
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele, Partial agenesis of the corpus callosum, Occipital encephalocele, ... ORPHA:101030
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Optic atrophy, Microtia, Hydrocephalus, Cataract, Intrauterine growth retardati... ORPHA:1914
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Microcephaly, Intrauterine growth retarda... OMIM:611134
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal cranial nerve morphology, Hearing impairment ORPHA:2345
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro... ORPHA:1908
Alg3-Cdg
Neural tube defect, Cataract, Abnormal pinna morphology, Hearing impairment, Cardiomyopathy ORPHA:79321
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes ORPHA:1104
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Microtia, Spina bifida, Microcornea, Attached earlobe, Low-set, posteriorly rotate... ORPHA:1327
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Triploidy
Meningocele, Hydrocephalus, Holoprosencephaly, Iris coloboma, Cataract, Low-set, posteriorly rota... ORPHA:3376
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation OMIM:603194
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Joubert Syndrome 14
Meningocele, Encephalocele, Coloboma, Optic atrophy, Hydrocephalus, Growth delay, Low-set ears, P... OMIM:614424
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Aganglionic megacolon, Heterochromia iridis, Congenital sensorineural ... ORPHA:894
Pelvis-Shoulder Dysplasia
Mesomelic/rhizomelic limb shortening, Short stature, Microtia, Spina bifida, Hydrocephalus, Micro... ORPHA:2839
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature, Chorioretinal coloboma, Low-set, posteriorly rotated ears, Protruding... ORPHA:2031
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Amish Lethal Microcephaly
Spina bifida, Optic atrophy, Agenesis of corpus callosum ORPHA:99742
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Short stature, Spina bifida occulta, Low-set, posteriorly rotated ears, Intrauterine... ORPHA:2311
Phaver Syndrome
Conductive hearing impairment, Myelomeningocele, Aplasia/Hypoplasia of the earlobes, Pterygium, O... ORPHA:2876
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Neu-Laxova Syndrome 2
Spina bifida, Low-set ears, Cataract, Intrauterine growth retardation OMIM:616038
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus, Abnormal helix morphology ORPHA:1120
Czeizel-Losonci Syndrome
Myelomeningocele, Hypoplastic helices, Spina bifida, Prominent antitragus, Hydrocephalus, Spina b... ORPHA:2437
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the ... ORPHA:2789
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Cerebrocostomandibular Syndrome
Meningocele, Conductive hearing impairment, Myelomeningocele, Short stature, Spina bifida, Hydran... ORPHA:1393
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Fountain Syndrome
Spina bifida occulta, Short stature, Sensorineural hearing impairment, Spina bifida ORPHA:3219
Nail-Patella Syndrome
Lester's sign, Sensorineural hearing impairment, Short stature, Spina bifida, Microcornea, Antecu... OMIM:161200
Lateral Meningocele Syndrome
Meningocele, Patent ductus arteriosus, Conductive hearing impairment, Short stature, Abnormality ... OMIM:130720
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus... ORPHA:1136
Trisomy 18
Pointed helix, Short stature, Spina bifida, Anencephaly, Microcornea, Holoprosencephaly, Iris col... ORPHA:3380
Vacterl With Hydrocephalus
Aqueductal stenosis, Microtia, third degree, Anotia, Spina bifida, Arrhinencephaly, Hydrocephalus... ORPHA:3412
Lathosterolosis
Meningocele, Microcornea, Cataract, Intrauterine growth retardation, Opacification of the corneal... ORPHA:46059
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract OMIM:600145
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele, Agenesis of corpus callosum ORPHA:1827
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc... ORPHA:63259
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida, Hypoplastic iris stroma, Heterochromia iridis, Blue irides, Conge... OMIM:193500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Lateral ventricle dilatation, ... ORPHA:397715
Focal Dermal Hypoplasia
Patent ductus arteriosus, Spina bifida, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Co... ORPHA:2092
Phakomatosis Pigmentokeratotica
Spina bifida, Raynaud phenomenon, Arrhythmia ORPHA:2874
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Mosaic Trisomy 9
Patent ductus arteriosus, Spina bifida, Corneal opacity, Low-set ears, Intrauterine growth retard... ORPHA:99776
Trisomy 20P
Abnormal antihelix morphology, Macrotia, Spina bifida, Abnormal autonomic nervous system physiolo... ORPHA:261318
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Iris coloboma, Agenesis of corpus callosum OMIM:601707
Knobloch Syndrome 1
Patent ductus arteriosus, Peripapillary atrophy, Iris transillumination defect, Occipital meningo... OMIM:267750
Pagod Syndrome
Meningocele, Sudden cardiac death, Encephalocele, Spina bifida, Microcephaly, Arrhythmia ORPHA:991
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Neu-Laxova Syndrome
Macrotia, Spina bifida, Pterygium, Cataract, Intrauterine growth retardation ORPHA:2671
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Macrotia, Low-set ears, Spina bifida, Short umbilical cord, Pterygium, ... OMIM:256520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coloboma, Truncus arteriosus, Short stature, Spina bifida, Facial palsy, Abnormal optic disc morp... ORPHA:508498
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature, Iris coloboma, Cataract, Chorioretinal coloboma, Low-s... OMIM:234100
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Aicardi Syndrome
Lateral ventricle dilatation, Optic atrophy, Spina bifida, Cataract, Partial agenesis of the corp... OMIM:304050
Jacobsen Syndrome
Aplasia/Hypoplasia of the earlobes, Short stature, Spina bifida, Microcornea, Iris coloboma, Cata... ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida, Partial agenesis of the corpus callosum, Unilateral facia... OMIM:619480
22Q11.2 Deletion Syndrome
Meningocele, Small earlobe, Patent ductus arteriosus, Conductive hearing impairment, Posterior em... ORPHA:567
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Unilateral deafness, Nuclear cataract ORPHA:1010
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Short stature, Arrhinencephaly, Posteriorly rotated ears, Low-set ... OMIM:277170
Phocomelia, Schinzel Type
Meningocele, Disproportionate short stature, Intrauterine growth retardation, Protruding ear ORPHA:2879
Basal Cell Nevus Syndrome 1
Spina bifida, Iris coloboma, Hydrocephalus, Cataract OMIM:109400
Holoprosencephaly 7
Macrotia, Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosenc... OMIM:610828
Fibular Hemimelia
Spina bifida, Abnormal anterior chamber morphology ORPHA:93323
Fanconi Anemia
Patent ductus arteriosus, Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Aganglioni... ORPHA:84
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Semilobar Holoprosencephaly
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormality o... ORPHA:220386
Alobar Holoprosencephaly
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormality o... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormality o... ORPHA:93926
Lobar Holoprosencephaly
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormality o... ORPHA:93924
Neurofibromatosis, Type I
Spina bifida, Hypertension, Hydrocephalus, Aqueductal stenosis OMIM:162200
Marfan Syndrome
Meningocele, Lens luxation, Hypoplasia of the iris, Ectopia lentis, Lens subluxation, Flat cornea ORPHA:558
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Short stature, Spina bifida, Cataract, Corneal opacity OMIM:274000
Arima Syndrome
Occipital meningocele, Optic atrophy, Growth delay, Chorioretinal coloboma OMIM:243910
Koolen-De Vries Syndrome Due To A Point Mutation
Macrotia, Optic atrophy, Spina bifida, Hydrocephalus, Protruding ear, Developmental cataract, Hea... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Macrotia, Optic atrophy, Spina bifida, Hydrocephalus, Protruding ear, Developmental cataract, Hea... ORPHA:363958
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Coloboma, Short stature, Spina bifida, Spina bifida occulta, Cataract, ... OMIM:180849
Vater/Vacterl Association
Patent ductus arteriosus, Spina bifida, Patent urachus, Occipital encephalocele, Intrauterine gro... OMIM:192350
Campomelic Dysplasia
Conductive hearing impairment, Spinal dysraphism, Spina bifida, Hydrocephalus, Disproportionate s... OMIM:114290
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Otopalatodigital Syndrome, Type Ii
Conductive hearing impairment, Short stature, Spina bifida, Hydrocephalus, Cataract, Stillbirth, ... OMIM:304120
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Microcephaly ORPHA:322
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Long ear, Disproportionate short stature, Abnormal pinna morphology, Low-set ears, Occipital meni... OMIM:276820

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Csk

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Csk.

No publications found that use IMPC mice or data for Csk.

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MGI Allele Allele Type Produced
Csktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Csktm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Csktm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Csktm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Csktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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