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Gene: Kcnj13 MGI:3781032

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Gene Summary

Name:
potassium inwardly-rectifying channel, subfamily J, member 13
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
hemorrhage Kcnj13tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal head shape Kcnj13tm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Kcnj13tm1b(KOMP)Wtsi HOM   Early adult 0.00
cleft palate Kcnj13tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal embryo size Kcnj13tm1b(KOMP)Wtsi HOM E18.5 0.00

Download data as:  TSV  XLS

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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
Kidney  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote Not available
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Eye Morphology

VIP of left eye

14 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Forepaw

8 Images

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Eye Morphology

VIP of left fundus

14 Images

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Eye Morphology

VIP of right fundus

14 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Human diseases caused by Kcnj13 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 Kcnj13 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Vitreoretinal Degeneration, Snowflake Type
OMIM:193230
Leber Congenital Amaurosis 16
OMIM:614186

The table below shows human diseases predicted to be associated to Kcnj13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Isolated Dandy-Walker Malformation
Encephalocele, Prominent occiput, Platybasia, Frontal bossing, Cleft palate ORPHA:217
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis, Frontal bossing OMIM:311895
Cleft Velum
Aspiration pneumonia, Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla,... ORPHA:99772
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening OMIM:613857
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Clef... ORPHA:2521
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Craniosynostosis 1
Sagittal craniosynostosis, Systolic heart murmur, Scaphocephaly, Oxycephaly, Turricephaly, Bipari... OMIM:123100
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Flat occiput, Bradycardia, Plagiocephaly ORPHA:2898
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Death in infancy OMIM:258320
Adenylosuccinate Lyase Deficiency
Brachycephaly, Long philtrum, Thin upper lip vermilion, Flat occiput, Smooth philtrum ORPHA:46
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng... ORPHA:199306
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, Dysphagia, Cleft palate, High, narrow palate OMIM:201550
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Intrauterine growth retardation, Delayed eruption of teeth OMIM:600252
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Thick upper lip vermilion, Wide mouth, Thick lower lip vermilion OMIM:309545
Parietal Foramina 1
Cleft palate, Parietal foramina, Encephalocele, Cleft upper lip OMIM:168500
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p... ORPHA:2919
Thomas Syndrome
Cleft palate, Cleft upper lip, Dolichocephaly ORPHA:3316
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Birk-Barel Syndrome
High palate, Bifid uvula, Short philtrum, Microretrognathia, Submucous cleft soft palate, Dysphag... OMIM:612292
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Unilateral cleft lip ORPHA:2736
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Anencephaly 2
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip OMIM:619452
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ectopic anus, Short philtrum, Downturned corners of mouth, Cleft palate ORPHA:94066
Kleefstra Syndrome 2
Everted lower lip vermilion, Midface retrusion, Bifid uvula, Plagiocephaly OMIM:617768
Orofaciodigital Syndrome Xix
Retrognathia, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Mi... OMIM:620107
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Thin upper lip vermilion, Craniosy... ORPHA:314575
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Bifid uvula, Submucous cleft hard palate OMIM:619239
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Craniosynostosis 2
Brachycephaly, Turricephaly, Cleft soft palate, Supernumerary tooth, Frontal bossing, Unicoronal ... OMIM:604757
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate, Intrauterine growth retardation OMIM:620183
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate ORPHA:209908
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, High palate, Plagiocephaly, Dolichocephaly, Short philtrum, High, narrow palate OMIM:615433
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Long philtrum, Wide mouth, Micr... OMIM:616331
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Midface retrusion, Cleft palate ORPHA:1135
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormal mandible morphology, Hypodontia, Submucous cleft hard palate, High, narrow palate, Gloss... ORPHA:3201
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Tented upper lip vermilion, Long philtrum OMIM:619972
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... OMIM:617412
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa... ORPHA:2712
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Micrognathia ORPHA:166016
Schilbach-Rott Syndrome
Micrognathia, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Attention deficit hyperacti... OMIM:164220
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Cleft palate ORPHA:2476
Craniosynostosis 6
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin... OMIM:616602
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Midface retrusion, Craniosynostosis OMIM:612247
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Aica-Ribosiduria
Brachycephaly, Thin upper lip vermilion, Wide mouth ORPHA:250977
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Cleft soft palate, Micrognathia, Absent uvula, Triangular mouth, Gingival overgrow... OMIM:618529
Amish Lethal Microcephaly
Micrognathia, Cleft soft palate, Death in infancy ORPHA:99742
Enlarged Parietal Foramina
Parietal foramina, Myelomeningocele, Cleft lip, Cleft palate, Occipital encephalocele, Craniosyno... ORPHA:60015
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Pulmonary hypoplasia, Thick vermilion border ORPHA:250999
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate, Recurrent pn... OMIM:619314
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus OMIM:609166
Hydrolethalus
Retrognathia, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard palate, Cleft palat... ORPHA:2189
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, Cleft palate, Craniosynostosis OMIM:618265
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Abnormal soft ... ORPHA:884
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Attent... OMIM:619103
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Torticollis, Submucous cleft hard palate, Thin upper lip vermilion, Downturned corn... OMIM:619680
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Conical tooth, Encephalocele, Coronal craniosynostosis, Frontal bossing, Calvarial... ORPHA:228390
Arthrogryposis, Distal, Type 3
High palate, Micrognathia, Bifid uvula, Submucous cleft hard palate, Cleft palate OMIM:114300
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Pulmonic stenosis, Cranial as... ORPHA:137634
Cree Mental Retardation Syndrome
Micrognathia, Cleft soft palate OMIM:606851
Orofaciodigital Syndrome Type 10
Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Accessory oral frenulum ORPHA:2756
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip OMIM:619122
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental crowding, Thick v... OMIM:618106
Cdags Syndrome
Brachycephaly, Sagittal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Midface re... OMIM:603116
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Submucous cleft soft palate, Recurrent respiratory infections, I... ORPHA:2282
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Frontal bossi... ORPHA:2780
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Micrognathi... ORPHA:1071
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furr... OMIM:608670
Faciocardiorenal Syndrome
Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum, Cleft palate ORPHA:1973
W Syndrome
Submucous cleft hard palate, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Long philtrum, Submucous cleft hard palate, Anteriorly placed anus, Thin upper lip v... OMIM:612863
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Intestinal malrotation,... OMIM:614701
Meier-Gorlin Syndrome 5
Long philtrum, Micrognathia, Submucous cleft hard palate, Hypoplasia of the maxilla, Intrauterine... OMIM:613805
Neu-Laxova Syndrome
Retrognathia, Abnormality of the philtrum, Micrognathia, Bifid uvula, Submucous cleft hard palate... ORPHA:2671
Frontonasal Dysplasia 3
Brachycephaly, Cleft palate OMIM:613456
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Cleft soft palate, Microdontia, Smooth philtrum, Cleft palate, Eclabion, Agitation, Recurrent res... OMIM:619950
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Submucous cleft hard palate, Long philtrum, Abnormality of the dentition ORPHA:178303
Loeys-Dietz Syndrome 5
Retrognathia, High palate, Cleft soft palate, Eosinophilic infiltration of the esophagus, Bifid u... OMIM:615582
Stickler Syndrome, Type I
Pierre-Robin sequence, Micrognathia, Bifid uvula, Submucous cleft hard palate, Malar flattening, ... OMIM:108300
Orofaciodigital Syndrome Type 4
Micrognathia, Bifid uvula, Pulmonary hypoplasia, Abnormal oral frenulum morphology, Median cleft ... ORPHA:2753
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Plagiocephaly, Deep philtrum, Microdontia, Diastema, Cleft palate OMIM:605282
Velocardiofacial Syndrome
Retrognathia, Pierre-Robin sequence, Velopharyngeal insufficiency, Open mouth, Submucous cleft ha... OMIM:192430
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Myhre Syndrome
Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Craniofacial hyperos... ORPHA:2588
Spondylometaphyseal Dysplasia, Schmidt Type
Micrognathia, Cleft soft palate ORPHA:93316
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Narrow mouth, Pulmonary artery atresia, Clef... ORPHA:3426
Cerebrocostomandibular Syndrome
High palate, Cleft soft palate, Pierre-Robin sequence, Long philtrum, Micrognathia, Anteriorly pl... OMIM:117650
Desmosterolosis
Retrognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Intestinal malrotation, Ano... ORPHA:35107
Hypomandibular Faciocranial Dysostosis
Brachycephaly, Aplasia/Hypoplasia of the tongue, Bifid uvula, Midface retrusion, Narrow mouth, Tr... ORPHA:1790
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly, Narrow palate, High palate, Midface retrusion, Agenesis of permanen... OMIM:618644
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Crouzon Syndrome
Brachycephaly, Sagittal craniosynostosis, High palate, Coronal craniosynostosis, Midface retrusio... OMIM:123500
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attenti... OMIM:619227
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Parietal foramina, Plagiocephaly, Ectopic anus, Wide mouth, Coronal craniosynostos... ORPHA:85199
Native American Myopathy
High palate, Micrognathia, Bifid uvula, Submucous cleft soft palate, Downturned corners of mouth,... ORPHA:168572
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Micrognathia, Submucous cleft hard palate OMIM:222765
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, Thin upper lip... OMIM:300990
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Treacher Collins Syndrome 1
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Narrow mouth, Mal... OMIM:154500
Limb-Mammary Syndrome
Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate,... ORPHA:69085
Humeroradial Synostosis With Craniofacial Anomalies
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:236410
Cerebrooculonasal Syndrome
Brachycephaly, Encephalocele, Narrow palate, High palate, Long philtrum, Proboscis, Frontal bossi... OMIM:605627
Ear-Patella-Short Stature Syndrome
Retrognathia, Mandibular aplasia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Hypopla... ORPHA:2554
Holoprosencephaly 7
Bilateral cleft lip, Midface retrusion, Median cleft lip and palate, Frontal bossing, Median clef... OMIM:610828
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Submucous cleft hard palate OMIM:617660
Branchioskeletogenital Syndrome
Mandibular prognathia, Bifid uvula, Submucous cleft hard palate, Short philtrum, Hypoplasia of th... ORPHA:1299
Dubowitz Syndrome
Hyperactivity, High palate, Delayed eruption of teeth, Micrognathia, Velopharyngeal insufficiency... OMIM:223370
Walker-Warburg Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:899
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Pyloric stenosis, Submucous cleft hard palate, Thin upper lip vermilion ORPHA:457279
Craniosynostosis And Dental Anomalies
Brachycephaly, Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Narrow palate, Turricephaly,... OMIM:614188
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cleft palate, T... ORPHA:2250
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Wide mouth, Widely spaced teeth, Dental crowding, Short philtrum, Submucous cleft soft palate, Im... OMIM:300967
Marden-Walker Syndrome
Retrognathia, Micrognathia, Pyloric stenosis, Bifid uvula, Submucous cleft hard palate, Narrow mo... ORPHA:2461
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, High palate, Deep philtrum, Micrognathia, Submucous cleft hard palate, Open ... OMIM:115150
Hereditary Angioedema Type 1
Abnormal uvula morphology, Intestinal edema, Abnormal soft palate morphology, Tongue edema, Dysph... ORPHA:100050
Hardikar Syndrome
Cleft soft palate, Esophageal varix, Intestinal malrotation, Celiac disease, Pulmonary artery ste... OMIM:301068
Dubowitz Syndrome
High palate, Wide mouth, Delayed eruption of teeth, Malabsorption, Micrognathia, Submucous cleft ... ORPHA:235
Zttk Syndrome
High palate, Bifid uvula, Submucous cleft hard palate, Unilateral lung agenesis, Short philtrum, ... OMIM:617140
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Attention deficit hyperactivity disorder, Dystonia, Intrauterine gro... OMIM:618891
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Smooth philtrum, Intraute... OMIM:619321
Tolchin-Le Caignec Syndrome
High palate, Micrognathia, Submucous cleft hard palate, Narrow mouth, Attention deficit hyperacti... OMIM:618971
Holoprosencephaly 13, X-Linked
Micrognathia, Submucous cleft hard palate, Median cleft lip, Solitary median maxillary central in... OMIM:301043
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Cleft soft palate, Widely spaced teeth, Pyloric stenosis, Supernumerary tooth, Dysp... ORPHA:268261
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Wide mouth, Thick vermilion border, Bifid uvula, Submucous cleft hard pala... ORPHA:2658
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly, Short lingual frenulum, Short philtrum, Anteriorly placed anus, Widely-spaced maxi... OMIM:608980
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Pneumothorax, Cleft soft palate, High palate, Bifid tong... OMIM:619472
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Frontofacionasal Dysplasia
Brachycephaly, Hypoplasia of the frontal bone, Cleft upper lip, Cranium bifidum occultum, Bifid u... OMIM:229400
Restrictive Dermopathy 1
Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Submucous cleft hard palate, Pulmon... OMIM:275210
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Wide mouth, Deep philtrum, Microdontia, Submucous cleft hard palate, Macroglossia, ... OMIM:619194
Blackfan-Diamond Anemia
High palate, Adenocarcinoma of the colon, Cleft soft palate, Micrognathia, Cleft lip ORPHA:124
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Neoplasm of the tongue, Micrognathia, Bifid uvula, Submucous cleft hard palate, Rec... ORPHA:3047
Cardiofaciocutaneous Syndrome
Hypoplasia of the zygomatic bone, High palate, Submucous cleft hard palate, Long philtrum ORPHA:1340
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Unilateral lung agenesis, Short philtrum, Emphysema, Hypoplasia of the maxilla, Subm... ORPHA:500150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Enamel hypoplasia, Mandibular prognathia, High palate, Cleft soft palate, Wide mouth, Delayed eru... OMIM:619503
Campomelic Dysplasia
Irregular dentition, High palate, Long philtrum, Micrognathia, Submucous cleft hard palate, Narro... OMIM:114290
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Abnormality of dental color, Cranial asymmetry OMIM:163200
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Cranial asymmetry OMIM:614886
Holoprosencephaly 2
Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ... OMIM:157170
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Retrognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Malar flattening, Intrauter... ORPHA:2636
Restrictive Dermopathy
Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Microcolon, Submucous cleft hard pa... ORPHA:1662
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Natal tooth, Hypodontia, Short philtrum, Submucous cleft soft palate, Thin upper li... ORPHA:3455
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Thick lower lip vermilion, Aganglionic megacolo... ORPHA:261537
Microphthalmia, Syndromic 2
Dental malocclusion, Long philtrum, Delayed eruption of teeth, Oligodontia, Bifid uvula, Submucou... OMIM:300166
Chromosome 1P36 Deletion Syndrome, Distal
Cleft upper lip, High palate, Abnormality of the anus, Long philtrum, Abnormal lung lobation, Bif... OMIM:607872
Mowat-Wilson Syndrome
Mandibular prognathia, Enterocolitis, Delayed eruption of teeth, Widely spaced teeth, Aganglionic... ORPHA:2152
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Delayed eruption of teeth, Thick lower lip vermilion, Aganglionic megacolo... ORPHA:261552
Neuroocular Syndrome
Retrognathia, Widely spaced teeth, Ankyloglossia, Submucous cleft hard palate, Torus palatinus, D... OMIM:619539
Mowat-Wilson Syndrome
Delayed eruption of teeth, Widely spaced teeth, Aganglionic megacolon, Pyloric stenosis, Submucou... OMIM:235730
Coffin-Siris Syndrome 12
High palate, Micrognathia, Velopharyngeal insufficiency, Submucous cleft hard palate, Celiac disease OMIM:619325
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Leber Congenital Amaurosis 16
OMIM:614186
Vitreoretinal Degeneration, Snowflake Type
OMIM:193230

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 Kcnj13

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 Kcnj13.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Late onset obesity in mice with targeted deletion of potassium inward rectifier Kir7.1 from cells expressing the melanocortin-4 receptor. Journal of neuroendocrinology (January 2019) Kcnj13tm1a(KOMP)Wtsi 30561082
Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ Channel. PloS one (September 2015) Kcnj13tm1(KOMP)Vlcg PMC4581704

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MGI Allele Allele Type Produced
Kcnj13tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Kcnj13tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kcnj13tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Kcnj13tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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