Gene Summary

Name:
crumbs family member 2
Synonyms:
N/A

IMPC Data Collections

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
preweaning lethality, complete penetrance Crb2tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal vibrissa morphology Crb2tm1a(KOMP)Wtsi HET Early adult 5.87×10-06
abnormal retina morphology Crb2tm1a(KOMP)Wtsi HET Early adult 1.06×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

13 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 126 images

View all 27 images

Human diseases caused by Crb2 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.

The table below shows human diseases associated to Crb2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect OMIM:219730
Focal Segmental Glomerulosclerosis 9
OMIM:616220
Genetic Steroid-Resistant Nephrotic Syndrome
ORPHA:656

The table below shows human diseases predicted to be associated to Crb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
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
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
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
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
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
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypoplastic left heart, Cleft... ORPHA:2476
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Acalvaria
Spina bifida, Cleft palate, Holoprosencephaly, Hydrocephalus ORPHA:945
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Thoraco-Abdominal Enteric Duplication
Meningocele, Duodenal stenosis, Intestinal malrotation, Dextrocardia, Abnormal tricuspid valve mo... ORPHA:1759
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Cleft palate ORPHA:2345
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
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
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... ORPHA:1908
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Acropectorovertebral Dysplasia
Spina bifida, Cleft palate, High, narrow palate ORPHA:957
Caudal Duplication
Spina bifida, Myelomeningocele, Intestinal duplication ORPHA:1756
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Wildervanck Syndrome
Meningocele ORPHA:3456
Diaphanospondylodysostosis
Cleft palate, Myelomeningocele ORPHA:66637
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Intestinal malrotation, Cleft palate, Intrauterine growt... OMIM:603194
Humero-Radial Synostosis
Meningocele ORPHA:3265
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Blepharocheilodontic Syndrome 1
Anal atresia, Neural tube defect OMIM:119580
Sirenomelia
Spina bifida, Sirenomelia, Anal atresia, Tracheoesophageal fistula ORPHA:3169
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... ORPHA:1120
Anophthalmia Plus Syndrome
Spina bifida, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Triploidy
Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Macroglossia, Intestinal malrotat... ORPHA:3376
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifida ORPHA:63260
Alg3-Cdg
High palate, Abnormal uvula morphology, Neural tube defect, Macroglossia, Cardiomyopathy ORPHA:79321
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, High palate, Intrauterine growth retardation ORPHA:1327
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Tracheoesophage... ORPHA:2437
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Anomalous pulmonary venous return, Cleft palate, Intrauterine ... ORPHA:2311
Enlarged Parietal Foramina
Cleft palate, Occipital encephalocele, Myelomeningocele ORPHA:60015
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft lip and palate ORPHA:2003
Waardenburg Syndrome Type 1
Meningocele, Cleft palate, Aganglionic megacolon, Spina bifida ORPHA:894
Joubert Syndrome 14
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Cleft palate OMIM:614424
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Ventricular septal defect, Spina bifida, Hydranencephaly, Intraute... ORPHA:1393
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Glossoptosis ORPHA:2031
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Amish Lethal Microcephaly
Spina bifida, Cleft soft palate ORPHA:99742
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Lateral Meningocele Syndrome
Meningocele, High palate, Ventricular septal defect, High, narrow palate, Umbilical hernia ORPHA:2789
Lateral Meningocele Syndrome
Meningocele, Patent ductus arteriosus, High palate, Ventricular septal defect, Bicuspid aortic va... OMIM:130720
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Mosaic Trisomy 9
Patent ductus arteriosus, High palate, Ventricular septal defect, Spina bifida, Abnormal heart va... ORPHA:99776
Neu-Laxova Syndrome 2
Spina bifida, Cleft palate, High palate, Intrauterine growth retardation OMIM:616038
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly, Microglossia, Cleft palate ORPHA:2839
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Ectopic anus, Hydrocephalus, Spina bifida occulta, Dextrocardia, Situs inversus... OMIM:613686
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele, Median cleft palate ORPHA:1827
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... ORPHA:2369
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydrocephalus, Rectal abscess, Myeloschisis, Dermal sinus tract OMIM:600145
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Ana... ORPHA:63259
Vacterl With Hydrocephalus
Aqueductal stenosis, Esophageal atresia, Spina bifida, Arrhinencephaly, Hydrocephalus, Anal atres... ORPHA:3412
Arnold-Chiari Malformation Type Ii
Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis ORPHA:1136
Lumbar Syndrome
Spina bifida, Myelomeningocele, Anal atresia, Ectopic anus ORPHA:83628
Trisomy 18
Narrow palate, Ventricular septal defect, Esophageal atresia, Spina bifida, Anencephaly, Anal atr... ORPHA:3380
Curry-Jones Syndrome
Lipomyelomeningocele, Intestinal malrotation, Occipital meningocele, Intestinal pseudo-obstructio... OMIM:601707
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Duodenal atresia, Right atrial isomer... OMIM:306955
Cloacal Exstrophy
Myelomeningocele, Spina bifida, Anal atresia, Intestinal malrotation, Intestinal duplication ORPHA:93929
Trisomy 20P
Spina bifida, Umbilical hernia, Ectopic anus ORPHA:261318
Focal Dermal Hypoplasia
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Spina bi... ORPHA:2092
Lathosterolosis
Meningocele, High palate, Intrauterine growth retardation ORPHA:46059
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Orofaciodigital Syndrome Vi
Lobulated tongue, High palate, Tongue nodules, Arrhinencephaly, Hypoplastic left heart, Cleft pal... OMIM:277170
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida, Hypoplastic left heart, Situs inversus totalis ORPHA:991
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, ... OMIM:109400
Phocomelia, Schinzel Type
Meningocele, Anal atresia, Tracheoesophageal fistula, Cleft palate, High, narrow palate, Intraute... ORPHA:2879
Nail-Patella Syndrome
Spina bifida, Cleft palate OMIM:161200
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Neu-Laxova Syndrome
Spina bifida, Bifid uvula, Submucous cleft hard palate, Cleft palate, Intrauterine growth retarda... ORPHA:2671
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Non-Syndromic Anorectal Malformation
Myelomeningocele, Ectopic anus, Persistent cloaca, Anal atresia, Rectovaginal fistula, Rectoureth... ORPHA:557
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Spina bifida, Short um... OMIM:256520
Fanconi Anemia
Patent ductus arteriosus, High palate, Abnormal cardiac septum morphology, Spina bifida, Aganglio... ORPHA:84
Jacobsen Syndrome
Abnormality of the anus, Ectopic anus, Ventricular septal defect, Spina bifida, Pyloric stenosis,... ORPHA:2308
Vater/Vacterl Association
Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Spina bifida, Patent ura... OMIM:192350
22Q11.2 Deletion Syndrome
Meningocele, Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Spina bifid... ORPHA:567
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Hallermann-Streiff Syndrome
Spina bifida, High palate, Narrow palate, High, narrow palate OMIM:234100
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Atrioventricular canal defect, Bifid uvula, Patent ductus arteriosus OMIM:619480
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Spina bifida,... OMIM:274000
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Holoprosencephaly 7
Hydrocephalus, Semilobar holoprosencephaly, Median cleft lip and palate, Lobar holoprosencephaly,... OMIM:610828
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Knobloch Syndrome 1
Patent ductus arteriosus, Occipital meningocele, Pyloric stenosis, Spina bifida occulta, Occipita... OMIM:267750
Aicardi Syndrome
Spina bifida, Cleft palate, Hiatus hernia OMIM:304050
Campomelic Dysplasia
Spinal dysraphism, High palate, Spina bifida, Hydrocephalus, Submucous cleft hard palate, Abnorma... OMIM:114290
Marfan Syndrome
Meningocele, Mitral valve prolapse, Cleft palate, High, narrow palate, Mitral valve calcification ORPHA:558
Arima Syndrome
Esophageal varix, Occipital meningocele OMIM:243910
Koolen-De Vries Syndrome Due To A Point Mutation
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... ORPHA:363958
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, High palate, Narrow palate, Ventricular septal de... OMIM:180849
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Anal atresia, Abnormal heart morphology, Anal stenosis ORPHA:322
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Atrial septal defect, Stillbirth, Cleft palate, Umbilical hernia OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Occipital meningocele, Narrow palate OMIM:276820
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect OMIM:219730
Focal Segmental Glomerulosclerosis 9
OMIM:616220
Genetic Steroid-Resistant Nephrotic Syndrome
ORPHA:656

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 Crb2

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 Crb2.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Crb2tm1a(KOMP)Wtsi PMC7263671
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Crb2tm1c(KOMP)Wtsi 32290105
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Crb2tm1a(KOMP)Wtsi PMC6671969
Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8. Developmental biology (May 2019) Crb2tm1c(KOMP)Wtsi Crb2tm1a(KOMP)Wtsi 31145883
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Crb2tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Crb2tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Crb2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Crb2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Crb2tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Crb2tm1c(KOMP)Wtsi Wild type floxed exon (post-Flp) Mice
Crb2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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