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| Nomenclature |
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Symbol:
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Cacna1fnob2
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Name:
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calcium channel, voltage-dependent, alpha 1F subunit;
no b wave 2
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MGI ID: |
MGI:3605845 |
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Synonyms: |
Cav1.4nob2, nob2 |
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Gene:
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Cacna1f
Location:
ChrX:7607083-7635196 bp, + strand
Genetic Position: ChrX,
3.42 cM
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Mutation
origin |
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Strain of Origin:
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AXB6/PgnJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Transposon insertion |
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Mutation details: Sequence 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
