ENSMUSG00000049791


Mus musculus

Features
Gene ID: ENSMUSG00000049791
  
Biological name :Fzd4
  
Synonyms : Frizzled-4 / Fzd4 / Q61088
  
Possible biological names infered from orthology : frizzled class receptor 4 / Q9ULV1
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: D3
Gene start: 89404355
Gene end: 89413134
  
Corresponding Affymetrix probe sets: 10554808 (MoGene1.0st)   1419301_at (Mouse Genome 430 2.0 Array)   1434756_at (Mouse Genome 430 2.0 Array)   1449416_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000049852
NCBI entrez gene - 14366     See in Manteia.
MGI - MGI:108520
RefSeq - NM_008055
RefSeq Peptide - NP_032081
swissprot - Q3V1B2
swissprot - Q61088
Ensembl - ENSMUSG00000049791
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FZD4ENSGALG00000017242Gallus gallus
 FZD4ENSG00000174804Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Fzd10 / Q8BKG4 / Frizzled-10 / Q9ULW2* / frizzled class receptor 10*ENSMUSG0000008168352
Fzd9 / Q9R216 / Frizzled-9 / O00144* / frizzled class receptor 9*ENSMUSG0000004955151
Fzd1 / O70421 / Frizzled-1 / Q9UP38* / frizzled class receptor 1*ENSMUSG0000004467445
Fzd2 / Q9JIP6 / Frizzled-2 / Q14332* / frizzled class receptor 2*ENSMUSG0000005028844
Fzd5 / Q9EQD0 / Frizzled-5 / Q13467* / frizzled class receptor 5*ENSMUSG0000004500543
Fzd7 / Q61090 / Frizzled-7 / O75084* / frizzled class receptor 7*ENSMUSG0000004107543
Fzd8 / Q61091 / Frizzled-8 / Q9H461* / frizzled class receptor 8*ENSMUSG0000003690443
Fzd3 / Q61086 / Frizzled-3 / Q9NPG1* / frizzled class receptor 3*ENSMUSG0000000798932
Fzd6 / Q61089 / Frizzled-6 / O60353* / frizzled class receptor 6*ENSMUSG0000002229731
Smo / P56726 / smoothened, frizzled class receptor / Q99835*ENSMUSG0000000176124
Sfrp1 / Q8C4U3 / Secreted frizzled-related protein 1 / Q8N474*ENSMUSG0000003154814
Sfrp2 / P97299 / secreted frizzled-related protein 2 / Q96HF1*ENSMUSG0000002799613
Frzb / P97401 / Secreted frizzled-related protein 3 / Q92765* / frizzled related protein*ENSMUSG0000002700413
Sfrp4 / Q9Z1N6 / secreted frizzled-related protein 4 / Q6FHJ7*ENSMUSG0000002131913
Sfrp5 / secreted frizzled-related sequence protein 5 / Q5T4F7* / secreted frizzled related protein 5*ENSMUSG0000001882212


Protein motifs (from Interpro)
Interpro ID Name
 IPR000539  Frizzled/Smoothened, transmembrane domain
 IPR015526  Frizzled/secreted frizzled-related protein
 IPR017981  GPCR, family 2-like
 IPR020067  Frizzled domain
 IPR026551  Frizzled-4
 IPR036790  Frizzled cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001553 luteinization IMP
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001570 vasculogenesis IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007223 Wnt signaling pathway, calcium modulating pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0010812 negative regulation of cell-substrate adhesion IMP
 biological_processGO:0016055 Wnt signaling pathway IGI
 biological_processGO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway IMP
 biological_processGO:0031987 locomotion involved in locomotory behavior IMP
 biological_processGO:0034446 substrate adhesion-dependent cell spreading IMP
 biological_processGO:0035426 extracellular matrix-cell signaling IDA
 biological_processGO:0035567 non-canonical Wnt signaling pathway IBA
 biological_processGO:0042701 progesterone secretion IMP
 biological_processGO:0043507 positive regulation of JUN kinase activity IGI
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0060070 canonical Wnt signaling pathway IEA
 biological_processGO:0061299 retina vasculature morphogenesis in camera-type eye IEA
 biological_processGO:0061301 cerebellum vasculature morphogenesis IMP
 biological_processGO:0061304 retinal blood vessel morphogenesis IMP
 biological_processGO:0150012 positive regulation of neuron projection arborization IEA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 cellular_componentGO:0005886 plasma membrane IMP
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IBA
 cellular_componentGO:0030425 dendrite IMP
 cellular_componentGO:0106003 amyloid-beta complex IEA
 molecular_functionGO:0001540 amyloid-beta binding IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017147 Wnt-protein binding IPI
 molecular_functionGO:0019955 cytokine binding IEA
 molecular_functionGO:0030165 PDZ domain binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0038023 signaling receptor activity IGI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0042813 Wnt-activated receptor activity ISO
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
Ca2+ pathway
Asymmetric localization of PCP proteins
Regulation of FZD by ubiquitination
WNT5A-dependent internalization of FZD4
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000042 abnormal organ of Corti "abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000048 abnormal stria vascularis "anomalous structure of the layer of highly vascularized pigmented granular cells on the outer wall of the cochlear duct" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000260 abnormal angiogenesis "aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000467 abnormal esophagus morphology "malformation of the part of the digestive canal through which food passes from the pharynx to the stomach" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000469 abnormal esophageal squamous epithelium morphology "malformation of the scaly epithelial layer of the esophagus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc, J:54637]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000527 abnormal kidney development "anomalous differentiation of the paired organs responsible for urine secretion" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fzd8tm1Nat/Fzd8tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000851 cerebellum hypoplasia "reduced cell number in the cerebellum" [MGI:CLS, J:45302]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001133 impaired luteal cell differentiation "abnormal development of the cells of the corpus luteum of the ovary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33401]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001134 absent corpora lutea "missing yellow endocrine body formed in the ovary after follicle rupture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001289 persistence of hyaloid capillary system "failure of the degeneration of the transient vascular system of the eye during development" [J:49840]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Fgfr1tm1.1(KOMP)Vlcg/Fgfr1+
Genetic Background: C57BL/6N-Fgfr1tm1.1(KOMP)Vlcg/Ucd

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001664 abnormal digestion "altered ability of the mechanical, chemical, and enzymatic processes of the body to convert ingested food into material suitable for assimiliation for synthesis of tissues or liberation of energy " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001728 failure of implantation "inability of the blastocyst to attach to the endometrium of the uterus" [J:38772]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr1tm1.1(KOMP)Vlcg/Fgfr1+
Genetic Background: C57BL/6N-Fgfr1tm1.1(KOMP)Vlcg/Ucd

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lats1tm1Noj/Lats1tm1Noj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr1tm1.1(KOMP)Vlcg/Fgfr1+
Genetic Background: C57BL/6N-Fgfr1tm1.1(KOMP)Vlcg/Ucd

Allelic Composition: Fzd4tm1.1(KOMP)Vlcg/Fzd4tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Fzd4tm1.1(KOMP)Vlcg/Ucd

 MP:0002679 abnormal corpora lutea "malformed or absent yellow endocrine body formed in the ovary after follicle rupture" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002697 abnormal eye size "anomalous bulk of the organ of vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgfr1tm1.1(KOMP)Vlcg/Fgfr1+
Genetic Background: C57BL/6N-Fgfr1tm1.1(KOMP)Vlcg/Ucd

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Fzd4tm1Nat/Fzd4tm2.1Nat,Tg(Tek-cre)1Ywa/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat,Fzd8tm1Nat/Fzd8tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat,Fzd8tm1Nat/Fzd8+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Fzd4tm1Nat/Fzd4tm2.1Nat,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003356 impaired lutenization "atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:57854, J:43075]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fzd4tm1Nat/Fzd4+,Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004363 stria vascularis degeneration "degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004368 abnormal stria vascularis vasculature "any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004545 enlarged esophagus "increased size of the part of the digestive canal through which food passes from the pharynx to the stomach" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004936 abnormal ureteric bud branching morphogenesis "partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat,Fzd8tm1Nat/Fzd8tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004950 abnormal brain vasculature "any structural anomaly of the blood vessel network of the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fzd4tm1Nat/Fzd4tm2.1Nat,Tg(Tek-cre)1Ywa/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005185 decreased circulating progesterone level "less than the normal blood concentration of this antiestrogenic steroid" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:66817]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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]
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Allelic Composition: Fzd4tm1Nat/Fzd4tm2.1Nat,Tg(Tek-cre)1Ywa/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Fzd4tm1Nat/Fzd4tm2.1Nat,Tg(rx3-icre)1Mjam/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005602 decreased angiogenesis "reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:Rat Genome Database submission]
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Allelic Composition: Ebi3tm1Nkma/Ebi3tm1Nkma,Faslpr/Faslpr
Genetic Background: MRL.Cg-Ebi3tm1Nkma Faslpr

 MP:0006185 retinal hemorrhage "bleeding into the retina" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0006243 abnormal pupil dilation reaction to light "the pupil fails to constrict fully when exposed to bright light" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fzd4tm1Nat/Fzd4tm2.1Nat,Tg(Tek-cre)1Ywa/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0006359 absent startle reflex "failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0008916 abnormal astrocyte physiology "any functional anomaly of one of the large neuroglia cells of nervous tissue" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009619 abnormal optokinetic reflex "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fzd4tm1Nat/Fzd4tm2.1Nat,Tg(Tek-cre)1Ywa/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009869 abnormal descending aorta morphology "any strucutral anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fzd4tm1Nat/Fzd4+,Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0011102 partial embryonic 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 within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Fzd4tm1Nat/Fzd4+,Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1tm2(CAG-Bgeo,-Ndp,-EGFP)Nat,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0011110 partial preweaning 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 weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Fzd4tm1.1(KOMP)Vlcg/Fzd4tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Fzd4tm1.1(KOMP)Vlcg/Ucd

 MP:0011111 complete lethality during fetal growth through weaning "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 the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Fzd4tm1Nat/Fzd4tm1Nat,Fzd8tm1Nat/Fzd8tm1Nat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Slc8a1tm1Sjc/Slc8a1tm1Sjc
Genetic Background: involves: 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002957 Ap2a2 / P17427 / Mus musculus adaptor-related protein complex 2, alpha 2 subunit (Ap2a2), transcript variant 1, mRNA. / O94973* / adaptor related protein complex 2 alpha 2 subunit*  / complex / reaction
 ENSMUSG00000022841 Ap2m1 / P84091 / AP-2 complex subunit mu / Q96CW1* / adaptor related protein complex 2 mu 1 subunit*  / reaction / complex
 ENSMUSG00000020888 Dvl2 / Q60838 / Segment polarity DVL-2 / O14641* / dishevelled segment polarity protein 2*  / reaction / complex
 ENSMUSG00000035152 Ap2b1 / Q9DBG3 / AP-2 complex subunit beta / P63010* / adaptor related protein complex 2 beta 1 subunit*  / reaction / complex
 ENSMUSG00000034177 Rnf43 / Q5NCP0 / E3 ubiquitin-protein ligase RNF43 / Q68DV7* / ring finger protein 43*  / complex / reaction
 ENSMUSG00000027363 Usp8 / Q80U87 / ubiquitin specific peptidase 8 / P40818*  / reaction
 ENSMUSG00000018909 Arrb1 / Q8BWG8 / Beta-arrestin-1 / P49407* / arrestin beta 1*  / reaction / complex
 ENSMUSG00000060279 Ap2a1 / P17426 / AP-2 complex subunit alpha-1 / O95782* / adaptor related protein complex 2 alpha 1 subunit*  / complex / reaction
 ENSMUSG00000041961 Znrf3 / Q5SSZ7 / zinc and ring finger 3 / Q9ULT6*  / reaction / complex
 ENSMUSG00000009900 Wnt3a / P27467 / wingless-type MMTV integration site family, member 3A / P56704* / Wnt family member 3A*  / complex
 ENSMUSG00000021994 Wnt5a / P22725 / wingless-type MMTV integration site family, member 5A / P41221* / Wnt family member 5A*  / complex / reaction
 ENSMUSG00000008036 Ap2s1 / P62743 / AP-2 complex subunit sigma / P53680* / adaptor related protein complex 2 sigma 1 subunit*  / complex / reaction
 ENSMUSG00000060216 Arrb2 / Q91YI4 / Beta-arrestin-2 / P32121* / arrestin beta 2*  / reaction / complex
 ENSMUSG00000030201 Lrp6 / LDL receptor related protein 6 / O75581*  / complex






 

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