ENSMUSG00000030838


Mus musculus

Features
Gene ID: ENSMUSG00000030838
  
Biological name :Ush1c
  
Synonyms : Ush1c / USH1 protein network component harmonin
  
Possible biological names infered from orthology : Q9Y6N9
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: B3
Gene start: 46195350
Gene end: 46238503
  
Corresponding Affymetrix probe sets: 10563527 (MoGene1.0st)   1450001_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000119676
Ensembl peptide - ENSMUSP00000114494
Ensembl peptide - ENSMUSP00000134783
Ensembl peptide - ENSMUSP00000152126
Ensembl peptide - ENSMUSP00000135734
Ensembl peptide - ENSMUSP00000009667
Ensembl peptide - ENSMUSP00000077747
NCBI entrez gene - 72088     See in Manteia.
MGI - MGI:1919338
RefSeq - XM_006541212
RefSeq - NM_001163733
RefSeq - NM_001291182
RefSeq - NM_023649
RefSeq - NM_153677
RefSeq Peptide - NP_076138
RefSeq Peptide - NP_710143
RefSeq Peptide - NP_001278111
RefSeq Peptide - NP_001157205
swissprot - H3BIZ2
swissprot - D6RIM8
swissprot - H3BLC4
swissprot - A0A0R4J0Z8
swissprot - E9QMN1
swissprot - E9PYX1
Ensembl - ENSMUSG00000030838
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ush1cENSDARG00000051876Danio rerio
 USH1CENSGALG00000006192Gallus gallus
 USH1CENSG00000006611Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Whrn / Q80VW5 / whirlin / Q9P202*ENSMUSG0000003913719
Pdzd7 / PDZ domain containing 7 / Q9H5P4*ENSMUSG0000007481817
Pdzd11 / Q9CZG9 / PDZ domain-containing protein 11 / Q5EBL8* / PDZ domain containing 11*ENSMUSG000000156685


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR030237  Harmonin
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0034622 cellular protein-containing complex assembly IEA
 biological_processGO:0045494 photoreceptor cell maintenance IEA
 biological_processGO:0050953 sensory perception of light stimulus IEA
 biological_processGO:0050957 equilibrioception IEA
 biological_processGO:1904106 protein localization to microvillus IEA
 biological_processGO:1904970 brush border assembly IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0005903 brush border IEA
 cellular_componentGO:0045177 apical part of cell IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030507 spectrin binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ush1ctm1.1Mull/Ush1ctm1.1Mull
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0000479 abnormal intestinal cell "anomalous structure or development of the cells comprising the intestine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Celsr1ctb-2J/Celsr1ctb-2J
Genetic Background: STOCK Celsr1ctb-2J/GrsrJ

 MP:0000480 increased number of ribs "greater than normal numbers of the pairs of bony structures that make up the body wall" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0000488 abnormal intestinal epithelium morphology "anomalous structure or development of the cellular avascular layer of the digestive tube passing from the stomach to the anus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Celsr1ctb-2J/Celsr1ctb-2J
Genetic Background: STOCK Celsr1ctb-2J/GrsrJ

 MP:0000495 abnormal colon morphology "malformation of the portion of the large intestine between the cecum and the rectum" [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: Celsr1ctb-2J/Celsr1ctb-2J
Genetic Background: STOCK Celsr1ctb-2J/GrsrJ

 MP:0000496 abnormal small intestine morphology "structural or developmental anomalies of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Celsr1ctb-2J/Celsr1ctb-2J
Genetic Background: STOCK Celsr1ctb-2J/GrsrJ

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 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]
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Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

Allelic Composition: Ush1ctm1Bkts/Ush1ctm1Bkts
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

Allelic Composition: Ush1cdfcr-3J/Ush1cdfcr-3J
Genetic Background: STOCK Ush1cdfcr-3J/J

Allelic Composition: Ush1ctm1.1Mull/Ush1ctm1.1Mull
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Spry2tm1Ayos/Spry2tm1Ayos,Spry4tm1Ayos/Spry4tm1Ayos
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0001408 stereotypic behavior "repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s wrong with my mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Ush1cdfcr-3J/Ush1cdfcr-3J
Genetic Background: STOCK Ush1cdfcr-3J/J

 MP:0001512 trunk curl "posture of the trunk in a curled position" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
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Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

Allelic Composition: Ush1cdfcr-3J/Ush1cdfcr-3J
Genetic Background: STOCK Ush1cdfcr-3J/J

Allelic Composition: Ush1ctm1.1Mull/Ush1ctm1.1Mull
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cBySmn * C57BL/6 * CB17

Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0002599 increased mean platelet volume "increased content of platelet cells over the norm" [cml:Cathleen M. Lutz, Mouse Genome Informatics Curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0002622 abnormal cochlear hair cell morphology "malformation of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0002644 decreased circulating triglyceride level "lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cBySmn * C57BL/6 * CB17

 MP:0003019 increased circulating chloride level "elevated concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0003960 increased lean body mass "more than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0004324 vestibular hair cell degeneration "degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

 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: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

 MP:0004399 abnormal cochlear outer hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Myo7a4626SB/Myo7a4626SB
Genetic Background: involves: BALB/cRl

Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 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: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

 MP:0004431 abnormal hair cell mechanoelectric transduction "anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cBySmn * C57BL/6 * CB17

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0004492 abnormal orientation of inner hair cell stereociliary bundles "misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1.1Mull/Ush1ctm1.1Mull
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0004522 abnormal orientation of cochlear hair cell stereociliary bundles "misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Myo7a4626SB/Myo7a4626SB
Genetic Background: involves: BALB/cRl

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

Allelic Composition: Ush1ctm1.1Ugds/Ush1ctm1.1Ugds
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0004532 abnormal inner hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

Allelic Composition: Ush1ctm1.1Ugds/Ush1ctm1.1Ugds
Genetic Background: involves: 129S2/SvPas

 MP:0004577 abnormal cochlear hair cell inter-stereocilial links "any structural abnormality in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1.1Ugds/Ush1ctm1.1Ugds
Genetic Background: involves: 129S2/SvPas

 MP:0004578 abnormal cochlear hair bundle tip links "any structural abnormality in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cBySmn * C57BL/6 * CB17

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0005292 improved glucose tolerance "better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0005307 head tossing "compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

Allelic Composition: Ush1ctm1Bkts/Ush1ctm1Bkts
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

Allelic Composition: Ush1ctm1.1Mull/Ush1ctm1.1Mull
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0005628 decreased circulating potassium level "less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:Rat Genome Database submission]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0005633 increased circulating sodium level "greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Dixdc1tm1.1(KOMP)Vlcg/Dixdc1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Dixdc1tm1.1(KOMP)Vlcg/J

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1Bkts/Ush1ctm1Bkts
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

Allelic Composition: Ush1ctm1a(KOMP)Wtsi/Ush1ctm1a(KOMP)Wtsi
Genetic Background: C57BL/6N-Ush1ctm1a(KOMP)Wtsi/Wtsi

 MP:0008141 decreased small intestinal microvillus size "reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Celsr1ctb-2J/Celsr1ctb-2J
Genetic Background: STOCK Celsr1ctb-2J/GrsrJ

 MP:0008805 decreased circulating amylase level "reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:D08.811.277.450.066, MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1a(KOMP)Wtsi/Ush1ctm1a(KOMP)Wtsi
Genetic Background: C57BL/6N-Ush1ctm1a(KOMP)Wtsi/Wtsi

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1a(KOMP)Wtsi/Ush1ctm1a(KOMP)Wtsi
Genetic Background: C57BL/6N-Ush1ctm1a(KOMP)Wtsi/Wtsi

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Ush1ctm1a(KOMP)Wtsi/Ush1ctm1a(KOMP)Wtsi
Genetic Background: C57BL/6N-Ush1ctm1a(KOMP)Wtsi/Wtsi

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1ctm1a(KOMP)Wtsi/Ush1ctm1a(KOMP)Wtsi
Genetic Background: C57BL/6N-Ush1ctm1a(KOMP)Wtsi/Wtsi

 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: Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cByJ

Allelic Composition: Ush1ctm1.1Mull/Ush1ctm1.1Mull
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Ush1cdfcr/Ush1cdfcr
Genetic Background: involves: BALB/cBySmn * C57BL/6 * CB17

Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

Allelic Composition: Ush1ctm1Xzl/Ush1c+
Genetic Background: B6.129-Ush1ctm1Xzl

Allelic Composition: Ush1ctm1a(KOMP)Wtsi/Ush1ctm1a(KOMP)Wtsi
Genetic Background: C57BL/6N-Ush1ctm1a(KOMP)Wtsi/Wtsi

 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]
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Allelic Composition: Ush1ctm1Xzl/Ush1ctm1Xzl
Genetic Background: B6.129-Ush1ctm1Xzl

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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