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 retina morphology Crb2tm1a(KOMP)Wtsi HET Early adult 1.06×10-06
abnormal vibrissa morphology Crb2tm1a(KOMP)Wtsi HET Early adult 5.87×10-06

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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 Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

13 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
Ventricular septal defect, Hydrocephalus 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
Falciform retinal fold, Retinal dysplasia OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold 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, 7
Macular degeneration OMIM:610149
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
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... ORPHA:179
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Cleft palate, Anencephaly, Ectop... ORPHA:2476
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Acalvaria
Cleft palate, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Duodenal ... ORPHA:1759
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Schisis Association
Encephalocele, Anal atresia, Spina bifida, Anencephaly, Cleft palate, Tracheoesophageal fistula ORPHA:63862
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Isolated Klippel-Feil Syndrome
Anal atresia, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus ORPHA:2345
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
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... ORPHA:1908
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... OMIM:611134
Caudal Duplication
Intestinal duplication, Myelomeningocele, Spina bifida ORPHA:1756
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Acropectorovertebral Dysplasia
Cleft palate, High, narrow palate, Spina bifida ORPHA:957
Wildervanck Syndrome
Meningocele ORPHA:3456
Diaphanospondylodysostosis
Cleft palate, Myelomeningocele ORPHA:66637
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Intrauterine growth retardation, Cleft palate, Anencephaly, Intestina... OMIM:603194
Humero-Radial Synostosis
Meningocele ORPHA:3265
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Blepharocheilodontic Syndrome 1
Neural tube defect, Anal atresia OMIM:119580
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Sirenomelia
Tracheoesophageal fistula, Sirenomelia, Anal atresia, Spina bifida ORPHA:3169
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrial septal defect, Spina bifida, Atrioventricular canal defect, Bicuspid aortic valve, Patent ... ORPHA:1120
Anophthalmia Plus Syndrome
Cleft palate, Bilateral cleft lip and palate, Spina bifida ORPHA:1104
Triploidy
Macroglossia, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, ... ORPHA:3376
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Anal atresia, Myelomeningocele, Anencephaly ORPHA:63260
Alg3-Cdg
Macroglossia, High palate, Cardiomyopathy, Abnormal uvula morphology, Neural tube defect ORPHA:79321
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Intrauterine growth retardation, Spina bifida ORPHA:1327
Czeizel-Losonci Syndrome
High palate, Dextrocardia, Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta, T... ORPHA:2437
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Umbilical hernia, Intrauterine growth retardation, Cleft palate, Spina bifida occult... 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
Encephalocele, Ventricular septal defect, Meningocele, Hydrocephalus, Cleft palate OMIM:614424
Cerebrocostomandibular Syndrome
Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Short hard palate, Intrauterine gro... ORPHA:1393
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Glossoptosis ORPHA:2031
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Lateral Meningocele Syndrome
High palate, Ventricular septal defect, Meningocele, Umbilical hernia, High, narrow palate ORPHA:2789
Lateral Meningocele Syndrome
High palate, Hydrocephalus, Meningocele, Umbilical hernia, Ventricular septal defect, Cleft palat... OMIM:130720
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Neu-Laxova Syndrome 2
Cleft palate, High palate, Intrauterine growth retardation, Spina bifida OMIM:616038
Mosaic Trisomy 9
High palate, Dextrocardia, Spina bifida, Ventricular septal defect, Atrial septal defect, Intraut... ORPHA:99776
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida, Cleft palate, Microglossia ORPHA:2839
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Hydrocephalus, Myelomeningocele, Ectopic anus, Spina bifida... OMIM:613686
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Median cleft palate ORPHA:1827
Limb Body Wall Complex
Encephalocele, Short umbilical cord, Abnormal intestine morphology, Myelomeningocele, Spina bifid... ORPHA:2369
Sacral Defect With Anterior Meningocele
Hydrocephalus, Meningocele, Myelomeningocele, Myeloschisis, Dermal sinus tract, Rectal abscess OMIM:600145
Iniencephaly
Encephalocele, Spinal dysraphism, Anal atresia, Duodenal atresia, Myelomeningocele, Spina bifida,... ORPHA:63259
Obsolete: Arnold-Chiari Malformation Type Ii
Meningocele, Aqueductal stenosis, Hydrocephalus, Myelomeningocele ORPHA:1136
Vacterl With Hydrocephalus
Esophageal atresia, Anal atresia, Hydrocephalus, Spina bifida, Tracheoesophageal fistula, Aqueduc... ORPHA:3412
Lumbar Syndrome
Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida ORPHA:83628
Chromosome 17P13.1 Deletion Syndrome
High palate, Hydrocephalus, Spina bifida, Umbilical hernia, High, narrow palate OMIM:613776
Trisomy 18
Esophageal atresia, Anal atresia, Spina bifida, Ventricular septal defect, Atrial septal defect, ... ORPHA:3380
Curry-Jones Syndrome
Lipomyelomeningocele, Occipital meningocele, Intestinal malrotation, Intestinal pseudo-obstructio... OMIM:601707
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... OMIM:306955
Cloacal Exstrophy
Anal atresia, Myelomeningocele, Spina bifida, Intestinal duplication, Intestinal malrotation ORPHA:93929
Trisomy 20P
Umbilical hernia, Ectopic anus, Spina bifida ORPHA:261318
Focal Dermal Hypoplasia
Duodenal atresia, Ventricular septal defect, Spina bifida, Umbilical hernia, Patent ductus arteri... ORPHA:2092
Lathosterolosis
Meningocele, High palate, Intrauterine growth retardation ORPHA:46059
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Cleft palate, Occipital meningocele, Hamartoma of tongue, An... OMIM:616546
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Orofaciodigital Syndrome Vi
High palate, Hypoplastic left heart, Tongue nodules, Cleft palate, Occipital meningocele, Hamarto... OMIM:277170
Pagod Syndrome
Encephalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Meningocele ORPHA:991
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Hydrocephalus, Spina bifida, Cardiac rhabdomyoma, Hamartomatous stomach polyps, ... OMIM:109400
Phocomelia, Schinzel Type
Anal atresia, Meningocele, Intrauterine growth retardation, High, narrow palate, Cleft palate, Tr... ORPHA:2879
Nail-Patella Syndrome
Cleft palate, Spina bifida OMIM:161200
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Non-Syndromic Anorectal Malformation
Rectal fistula, Anal atresia, Persistent cloaca, Rectourethral fistula, Myelomeningocele, Ectopic... ORPHA:557
Neu-Laxova Syndrome
Bifid uvula, Spina bifida, Submucous cleft hard palate, Intrauterine growth retardation, Cleft pa... ORPHA:2671
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Spina bifida, Ventricular septal defect, Intrauterine grow... OMIM:256520
Vater/Vacterl Association
Esophageal atresia, Anal atresia, Spina bifida, Ventricular septal defect, Tetralogy of Fallot, P... OMIM:192350
Fanconi Anemia
Anal atresia, Aplasia/Hypoplasia of the uvula, High palate, Hydrocephalus, Spina bifida, Umbilica... ORPHA:84
Jacobsen Syndrome
Hypoplastic left heart, Duodenal atresia, Pyloric stenosis, Spina bifida, Abnormality of the anus... ORPHA:2308
22Q11.2 Deletion Syndrome
Anal atresia, Occipital myelomeningocele, Abnormal pulmonary valve morphology, Spina bifida, Meni... ORPHA:567
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Hallermann-Streiff Syndrome
Narrow palate, High, narrow palate, High palate, Spina bifida OMIM:234100
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Bifid uvula, Spina bifida OMIM:619480
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Spina bifida, Peri... ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Atrial septal defect, Spina bifida, Tetralogy of Fallot, Atrioventricu... OMIM:274000
Holoprosencephaly 7
Median cleft palate, Hydrocephalus, Median cleft lip and palate, Unilateral cleft palate, Lobar h... OMIM:610828
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Knobloch Syndrome 1
Pyloric stenosis, Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Patent du... OMIM:267750
Aicardi Syndrome
Cleft palate, Hiatus hernia, Spina bifida OMIM:304050
Campomelic Dysplasia
Spinal dysraphism, High palate, Hydrocephalus, Spina bifida, Submucous cleft hard palate, Abnorma... OMIM:114290
Marfan Syndrome
Meningocele, Mitral valve calcification, High, narrow palate, Cleft palate, Mitral valve prolapse ORPHA:558
Arima Syndrome
Occipital meningocele, Esophageal varix OMIM:243910
Koolen-De Vries Syndrome Due To A Point Mutation
Pulmonic stenosis, Hydrocephalus, Spina bifida, Ventricular septal defect, Atrial septal defect, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pulmonic stenosis, Hydrocephalus, Spina bifida, Ventricular septal defect, Atrial septal defect, ... ORPHA:363958
Rubinstein-Taybi Syndrome 1
High palate, Hypoplastic left heart, Spina bifida, Ventricular septal defect, Atrial septal defec... OMIM:180849
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Meningocele, Myelomeningocele, Lipomyelomeningocele ORPHA:573278
Exstrophy-Epispadias Complex
Anal atresia, Hydrocephalus, Spina bifida, Abnormal heart morphology, Anal stenosis ORPHA:322
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Hydrocephalus, Umbilical hernia, Spina bifida, Cleft palate, Stillbirth OMIM:304120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Narrow palate, High palate OMIM:276820
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus 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