ENSMUSG00000043850


Mus musculus

Features
Gene ID: ENSMUSG00000043850
  
Biological name :Clrn1
  
Synonyms : Clarin-1 / Clrn1 / Q8K445
  
Possible biological names infered from orthology : AC020636.2
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: D
Gene start: 58844028
Gene end: 58885340
  
Corresponding Affymetrix probe sets: 10498337 (MoGene1.0st)   1438347_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000051738
Ensembl peptide - ENSMUSP00000052254
Ensembl peptide - ENSMUSP00000072363
NCBI entrez gene - 229320     See in Manteia.
MGI - MGI:2388124
RefSeq - NM_153385
RefSeq - NM_153384
RefSeq - NM_153386
RefSeq Peptide - NP_700433
RefSeq Peptide - NP_700434
RefSeq Peptide - NP_700435
swissprot - Q8K445
swissprot - Q8K444
swissprot - B7ZNE8
Ensembl - ENSMUSG00000043850
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 clrn1ENSDARG00000102890Danio rerio
 ENSGALG00000010384Gallus gallus
 AC020636.2ENSG00000260234Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Clrn2 / clarin 2 / A0PK11*ENSMUSG0000004953033
Clrn3 / Q8BHH8 / Clarin-3 / Q8NCR9*ENSMUSG0000005086618


Protein motifs (from Interpro)
Interpro ID Name
 IPR026748  Clarin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007015 actin filament organization ISO
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0010592 positive regulation of lamellipodium assembly ISO
 biological_processGO:0045494 photoreceptor cell maintenance ISO
 biological_processGO:0048870 cell motility ISO
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050953 sensory perception of light stimulus ISO
 biological_processGO:0050957 equilibrioception ISO
 biological_processGO:0060088 auditory receptor cell stereocilium organization IMP
 biological_processGO:0060117 auditory receptor cell development IMP
 cellular_componentGO:0005874 microtubule IDA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005902 microvillus ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030027 lamellipodium ISO
 cellular_componentGO:0030140 trans-Golgi network transport vesicle IDA
 cellular_componentGO:0032420 stereocilium IDA
 cellular_componentGO:0045178 basal part of cell IDA


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]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 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]
Show

Allelic Composition: Clpptm1a(EUCOMM)Wtsi/Clpptm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Clpptm1a(EUCOMM)Wtsi/Wtsi

 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]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0001967 deafness "inability to hear" [J:57651]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Clrn1tm2.1Kuna/Clrn1tm2.1Kuna
Genetic Background: involves: 129 * BALB/cJ * C57BL/6J

 MP:0002098 abnormal vibrissae morphology "irregular or unusual structure, appearance, or alignment of the vibrissae" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Clpptm1a(EUCOMM)Wtsi/Clpptm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Clpptm1a(EUCOMM)Wtsi/Wtsi

 MP:0004397 absent cochlear inner hair cells "absence 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"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0004403 absent cochlear outer hair cells "absence 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: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0004414 decreased cochlear microphonics "reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0004432 abnormal cochlear hair cell physiology "anomalies in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0004438 abnormal vestibular hair cell physiology "anomalies in processes pertinent to the integrated function of the sensory epithelium of the maculae and cristae in the membranous labyrinth of the inner ear" [J:100987, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0004465 degeneration of supporting cells "degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 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"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 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"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Clrn1tm2.1Kuna/Clrn1tm2.1Kuna
Genetic Background: involves: 129 * BALB/cJ * C57BL/6J

 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"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Clrn1tm1.1Kuna/Clrn1tm1.1Kuna,Tg(Atoh1-Clrn1)#Kuna/0
Genetic Background: involves: C57BL/6J

 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"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Clrn1tm1.1Kuna/Clrn1tm1.1Kuna,Tg(Atoh1-Clrn1)#Kuna/0
Genetic Background: involves: C57BL/6J

 MP:0004737 absent distortion product otoacoustic emissions "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0004814 reduced linear vestibular evoked potential "reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal s head)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Clrn1tm1.1Kuna/Clrn1tm1.1Kuna,Tg(Atoh1-Clrn1)#Kuna/0
Genetic Background: involves: C57BL/6J

 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"]
Show

Allelic Composition: Clpptm1a(EUCOMM)Wtsi/Clpptm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Clpptm1a(EUCOMM)Wtsi/Wtsi

 MP:0009142 decreased prepulse inhibition "decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Clpptm1a(EUCOMM)Wtsi/Clpptm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Clpptm1a(EUCOMM)Wtsi/Wtsi

 MP:0011966 abnormal auditory brainstem response waveform shape "any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts" [MGI:csmith]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 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]
Show

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Clrn1tm2.1Kuna/Clrn1tm2.1Kuna
Genetic Background: involves: 129 * BALB/cJ * C57BL/6J

Allelic Composition: Clrn1tm1.1(KOMP)Vlcg/Clrn1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Clrn1tm1.1(KOMP)Vlcg/Ucd

  


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






 

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