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Cacna1fnob2
Spontaneous Allele Detail
Summary
Symbol: Cacna1fnob2
Name: calcium channel, voltage-dependent, alpha 1F subunit; no b wave 2
MGI ID: MGI:3605845
Synonyms: Cav1.4nob2, nob2
Gene: Cacna1f  Location: ChrX:7473342-7501435 bp, + strand  Genetic Position: ChrX, 3.42 cM
Alliance: Cacna1fnob2 page
Mutation
origin
Strain of Origin:  AXB6/PgnJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsSequence analysis identifies this allele as an insertion of a transposable element in exon 2. The out-of-frame insertion produces a stop codon after synthesis of 32 amino acids. Immunofluorescent staining using an antibody directed to the C terminal of the subunit protein indicates that it is not expressed in the inner or outer plexiform layers of the retina. (J:123811)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cacna1f Mutation:  19 strains or lines available
References
Original:  J:123811 Chang B, et al., The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci. 2006 Jan-Feb;23(1):11-24
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory