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

Select physiological systems to view:
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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 Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

13 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
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
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
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 detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Spina... ORPHA:2476
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Acalvaria
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly 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
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cleft palate, Ventricular septal defect, Spina bifida ORPHA:2345
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Acropectorovertebral Dysplasia
Spina bifida, High, narrow palate, Cleft palate ORPHA:957
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Caudal Duplication
Myelomeningocele, Spina bifida, Intestinal duplication ORPHA:1756
Blepharocheilodontic Syndrome 1
Anal atresia, Neural tube defect OMIM:119580
Sirenomelia
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia ORPHA:3169
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Amish Lethal Microcephaly
Spina bifida, Cleft soft palate ORPHA:99742
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Spina bifida, Cleft palate ORPHA:1104
Craniorachischisis
Myelomeningocele, Anal atresia, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Spina bifida, Intrauterine growth retardation ORPHA:1327
Alg3-Cdg
High palate, Macroglossia, Neural tube defect, Cardiomyopathy, Abnormal uvula morphology ORPHA:79321
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, Hydrocephalus, Tracheoesophageal fistula, Spina bifida occulta, De... ORPHA:2437
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Waardenburg Syndrome Type 1
Spina bifida, Aganglionic megacolon, Cleft palate, Meningocele ORPHA:894
Cerebrocostomandibular Syndrome
Myelomeningocele, Cleft palate, Glossoptosis, Short hard palate, Hydranencephaly, Ventricular sep... ORPHA:1393
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Neu-Laxova Syndrome 2
High palate, Spina bifida, Intrauterine growth retardation, Cleft palate OMIM:616038
Mosaic Trisomy 9
High palate, Atrial septal defect, Cleft palate, Intestinal malrotation, Endocardial fibroelastos... ORPHA:99776
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia, Spina bifida ORPHA:2839
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Holoprosencephaly, Anencephaly, ... ORPHA:63259
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Atrial septal defect, Cleft palate, Short umbilical cord, Anence... ORPHA:2369
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Tracheoesophageal fistula, Esophageal atresia, ... ORPHA:3412
Lumbar Syndrome
Myelomeningocele, Anal atresia, Ectopic anus, Spina bifida ORPHA:83628
Trisomy 18
Anal atresia, Narrow palate, Atrial septal defect, Cleft palate, Holoprosencephaly, Esophageal at... ORPHA:3380
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Trisomy 20P
Ectopic anus, Spina bifida, Umbilical hernia ORPHA:261318
Cloacal Exstrophy
Myelomeningocele, Anal atresia, Intestinal malrotation, Intestinal duplication, Spina bifida ORPHA:93929
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Duodenal atresia, Ventricular septal defect, Patent ductus ar... ORPHA:2092
Neu-Laxova Syndrome 1
Stillbirth, Cleft palate, Short umbilical cord, Hydranencephaly, Small placenta, Ventricular sept... OMIM:256520
Basal Cell Nevus Syndrome
Hydrocephalus, Cleft palate, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Cardiac fibroma, ... OMIM:109400
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Meningocele, Encephalocele, Spina bifida ORPHA:991
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Nail-Patella Syndrome
Spina bifida, Cleft palate OMIM:161200
Neu-Laxova Syndrome
Cleft palate, Bifid uvula, Spina bifida, Intrauterine growth retardation, Submucous cleft hard pa... ORPHA:2671
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Fanconi Anemia
High palate, Anal atresia, Hydrocephalus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:84
Jacobsen Syndrome
Ectopic anus, Duodenal atresia, Aortic valve stenosis, Hypoplastic left heart, Intestinal malrota... ORPHA:2308
Vater/Vacterl Association
Anal atresia, Tracheoesophageal fistula, Occipital encephalocele, Esophageal atresia, Tetralogy o... OMIM:192350
22Q11.2 Deletion Syndrome
Tricuspid atresia, Anal atresia, Hydrocephalus, Abnormal pulmonary valve morphology, Atrial septa... ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Patent ductus arteriosus, Bifid uvula, Atrioventricular canal defect OMIM:619480
Hallermann-Streiff Syndrome
High palate, Spina bifida, High, narrow palate, Narrow palate OMIM:234100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Cleft palate, Atrioventricular canal defect, Tetralogy of Fallot, Ventricul... OMIM:274000
Aicardi Syndrome
Spina bifida, Hiatus hernia, Cleft palate OMIM:304050
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Campomelic Dysplasia
High palate, Abnormal heart morphology, Hydrocephalus, Cleft palate, Spinal dysraphism, Spina bif... OMIM:114290
Rubinstein-Taybi Syndrome 1
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Hypoplastic ... OMIM:180849
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363958
Semilobar Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Bifid uvula, Neural tube defect, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Bifid uvula, Neural tube defect, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Bifid uvula, Neural tube defect, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Bifid uvula, Neural tube defect, Abnormal heart morphology ORPHA:93924
Exstrophy-Epispadias Complex
Anal atresia, Hydrocephalus, Anal stenosis, Spina bifida, Abnormal heart morphology ORPHA:322
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele ORPHA:573278
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 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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