Manteia - Molecule gene

ENSMUSG00000035403

Mus musculus

Features

Gene ID:	ENSMUSG00000035403

Biological name :	Crb2

Synonyms :	2 / Crb2 / Q80YA8

Possible biological names infered from orthology :	crumbs 2, cell polarity complex component / Q5IJ48

Species:	Mus musculus

Chr. number:	2
Strand:	1
Band:	B
Gene start:	37776249
Gene end:	37799103

Corresponding Affymetrix probe sets:	10471819 (MoGene1.0st)

Cross references:	Ensembl peptide - ENSMUSP00000144709 Ensembl peptide - ENSMUSP00000058007 NCBI entrez gene - 241324 See in Manteia. MGI - MGI:2679260 RefSeq - NM_001163566 RefSeq Peptide - NP_001157038 swissprot - A0A0N4SUJ6 swissprot - Q80YA8 Ensembl - ENSMUSG00000035403

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
crb2a	ENSDARG00000060106	Danio rerio
crb2b	ENSDARG00000060081	Danio rerio
CRB2	ENSGALG00000001169	Gallus gallus
CRB2	ENSG00000148204	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
1 / Crb1 / Q8VHS2 / P82279* / crumbs 1, cell polarity complex component*	ENSMUSG00000063681	34
Slit1 / Q80TR4 / Slit homolog 1 protein / O75093* / slit guidance ligand 1*	ENSMUSG00000025020	18
Slit3 / Q9WVB4 / Slit homolog 3 protein / O75094* / slit guidance ligand 3*	ENSMUSG00000056427	18
Slit2 / Q9R1B9 / slit guidance ligand 2 / O94813*	ENSMUSG00000031558	17
Dner / Q8JZM4 / Delta and Notch-like epidermal growth factor-related receptor / Q8NFT8* / delta/notch like EGF repeat containing*	ENSMUSG00000036766	15
Dll3 / O88516 / Delta-like protein 3 / Q9NYJ7* / delta like canonical Notch ligand 3*	ENSMUSG00000003436	12
2 / Dlk2 / Q8K1E3 / Q6UY11* / delta like non-canonical Notch ligand 2*	ENSMUSG00000047428	10
Dlk1 / delta like non-canonical Notch ligand 1 / P80370*	ENSMUSG00000040856	9

Protein motifs (from Interpro)

Interpro ID	Name
IPR000152	EGF-type aspartate/asparagine hydroxylation site
IPR000742	EGF-like domain
IPR001791	Laminin G domain
IPR001881	EGF-like calcium-binding domain
IPR009030	Growth factor receptor cysteine-rich domain superfamily
IPR013032	EGF-like, conserved site
IPR013320	Concanavalin A-like lectin/glucanase domain superfamily
IPR018097	EGF-like calcium-binding, conserved site

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001707	mesoderm formation	IMP
biological_process	GO:0001756	somitogenesis	IMP
biological_process	GO:0007275	multicellular organism development	IEA
biological_process	GO:0007369	gastrulation	IEA
biological_process	GO:0010470	regulation of gastrulation	IMP
biological_process	GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP
biological_process	GO:0010951	negative regulation of endopeptidase activity	IEA
biological_process	GO:0014028	notochord formation	IMP
biological_process	GO:0030513	positive regulation of BMP signaling pathway	IMP
biological_process	GO:0045199	maintenance of epithelial cell apical/basal polarity	IMP
biological_process	GO:0055111	ingression involved in gastrulation with mouth forming second	IMP
biological_process	GO:0072358	cardiovascular system development	IMP
cellular_component	GO:0005886	plasma membrane	IEA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
cellular_component	GO:0016324	apical plasma membrane	IEA
cellular_component	GO:0032991	protein-containing complex	IEA
molecular_function	GO:0005509	calcium ion binding	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0019828	aspartic-type endopeptidase inhibitor activity	IEA
molecular_function	GO:0019899	enzyme binding	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000474	abnormal foregut morphology	"malformed cephalic portion of the primitive digestive tube of the embryo" [J:35802]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0000929	open neural tube	"incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0001006	abnormal cone morphology	"structural or developmental anomaly of the retinal receptors that give rise to color vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0001284	absent vibrissae	"missing whiskers" [J:18378]	Show Allelic Composition: Casq2^{tm1b(KOMP)Wtsi}/Casq2⁺ Genetic Background: C57BL/6N-Casq2^{tm1b(KOMP)Wtsi}/Ucd
MP:0001325	abnormal retina morphology	"structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J Allelic Composition: Crb2^{tm1a(KOMP)Wtsi}/Crb2⁺ Genetic Background: C57BL/6N-Crb2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0001326	retinal degeneration	"pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0001327	reduced retinal photoreceptor cell number	"fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0001328	disorganized retinal layers	"delaminated or mispositioned sheets of cells comprising the optic part of the retina" [J:33400]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0001680	abnormal mesoderm development	"failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0001685	abnormal endoderm development	"failure or abnormality in the formation of the endoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0001688	abnormal somite development	"anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0001695	abnormal gastrulation	"anomalous development and invagination of the embryonic germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0001699	enlarged embryo size	"larger proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0001891	hydroencephaly	"excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0002085	abnormal embryonic tissue morphology	"structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0002169	no phenotype detected	"normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0002231	abnormal primitive streak morphology	"anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0002824	abnormal chorioallantoic fusion	"abnormal process of or failure of the formation of the membrane that forms the fetal portion of the placenta; derived from the fusion of the chorion and the allantois" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0002825	abnormal notochord	"malformation or absence of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0002864	abnormal ocular fundus morphology	"malformation of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0003119	abnormal digestive system development	"dysmorphology of the organ system that converts ingested food to nutrients and energy" [smb:Susan M. Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0003229	abnormal vitelline vasculature	"malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0003442	decreased circulating glycerol level	"lower than normal concentration of glycerol in the blood" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Crb2^{tm1a(KOMP)Wtsi}/Crb2⁺ Genetic Background: C57BL/6N-Crb2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0003727	abnormal retinal layer morphology	"malformation in any of the layers that make up the retina" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Pdgfra-cre)1Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0003728	abnormal photoreceptor layer	"malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0003731	abnormal outer nuclear layer morphology	"malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Pdgfra-cre)1Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
MP:0003732	abnormal outer plexiform layer morphology	"malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0003886	abnormal embryonic epiblast morphology	"anomaly in the development/organization of the tissue that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0004021	abnormal rod electrophysiology	"anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0004022	abnormal cone electrophysiology	"anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0004180	failure of initiation of embryo turning	"failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0004261	abnormal embryonic neuroepithelium morphology	"any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0004559	small allantois	"reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0005103	abnormal retinal pigmentation	"anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Crb2^{tm1a(KOMP)Wtsi}/Crb2⁺ Genetic Background: C57BL/6N-Crb2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0005201	abnormal retinal pigment epithelium morphology	"anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0005241	abnormal retinal ganglion layer morphology	"anomalous structure of the innermost nuclear layer of the retina, which projects axons through the optic nerve to the brain " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0005253	abnormal eye physiology	"anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0005547	abnormal Muller cell morphology	"anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0005551	abnormal eye electrophysiology	"abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0006069	abnormal retinal neuronal layer morphology	"malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0006071	abnormal retinal progenitor morphology	"anomoly in the proliferation or differentiation of the cells that give rise to the various cells of the retina" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92622:]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0006073	abnormal retinal bipolar cell morphology	"anomalous structure of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623:]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0008105	increased amacrine cell number	"increase in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0008449	abnormal retinal cone cell outer segment morphology	"any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0008452	increased retinal rod cell number	"greater number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0008456	abnormal retinal rod cell outer segment morphology	"any strucutral anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0008515	thin retinal outer nuclear layer	"reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Pdgfra-cre)1Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
MP:0008852	retinal neovascularization	"formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina" [MESH:C11.768.725]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0009657	failure of chorioallantoic fusion	"failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0009772	abnormal retinal development	"anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0010097	abnormal retinal blood vessel morphology	"any structural anomaly of the blood vessels supplying the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N
MP:0010236	abnormal retina outer limiting membrane morphology	"any structural anomaly of the row of junctional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tbc1d4^tm1Lex/Tbc1d4^tm1Lex Genetic Background: involves: 129S/SvEvBrd * C57BL/6J * C57BL/6N Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Pdgfra-cre)1Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
MP:0011098	complete embryonic lethality during organogenesis	"death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Cp^{tm1b(KOMP)Wtsi}/Cp^{tm1b(KOMP)Wtsi} Genetic Background: C57BL/6N-Cp^{tm1b(KOMP)Wtsi}/J
MP:0011101	partial prenatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Pdgfra-cre)1Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
MP:0011204	abnormal visceral yolk sac blood island morphology	"any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac" [PMID:16140152]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0011257	abnormal head fold morphology	"any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; it constitutes the first body fold, and initiates brain, foregut and heart development" [ISBN:0-683-40008-8, PMID:10791309]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0011964	increased total retina thickness	"increased width of the retina through the center plane" [MGI:csmith]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0011965	decreased total retina thickness	"decreased width of the retina through the center plane" [MGI:csmith]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0012029	abnormal electroretinogram waveform feature	"any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation" [MGI:csmith]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0012081	absent heart tube	"absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart" [MGI:anna]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0012104	small amniotic cavity	"reduced size of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds" [MGI:anna]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0012143	decreased a wave amplitude	"reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0012676	dilated brain ventricles	"the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid" [MGI:anna]	Show Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Crx-cre)1Tfur/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6J
MP:0012739	abnormal anterior primitive streak morphology	"any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node" [MGI:anna]	Show Allelic Composition: Sh3kbp1^tm1Kuro/Sh3kbp1^tm1Kuro,Cd79a^tm1(cre)Reth/Cd79a⁺,Gt(ROSA)26Sor^{tm4(Ikbkb)Rsky}/? Genetic Background: involves: BALB/c * C57BL/6 * NZB
MP:0030005	increased retinal apoptosis	"increase in the number of cells in the retina undergoing programmed cell death" [MGI:anna]	Show Allelic Composition: Crb1^tm1Wij/Crb1^tm1Wij,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
MP:0030006	decreased retinal apoptosis	"decrease in the number of cells in the retina undergoing programmed cell death" [MGI:anna]	Show Allelic Composition: Crb1^tm1Wij/Crb1⁺,Crb2^tm1.1Wij/Crb2^tm1.1Wij,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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