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| Nomenclature |
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Symbol:
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Cacna1ftm1Ntbh
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Name:
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calcium channel, voltage-dependent, alpha 1F subunit;
targeted mutation 1, N Torben Bech-Hansen
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MGI ID: |
MGI:3609549 |
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Synonyms: |
Cacna1fG305X |
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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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Germline Transmission:
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Earliest citation of germline transmission:
J:102753
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: An in-frame stop codon was inserted into position 305 in exon 7, predicted to result in a truncated transcript. RT-PCR analysis demonstrates confirmed disruption of the transcript. (J:102753)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Cacna1f Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:102753
Mansergh F et al.,
"Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina."
Hum Mol Genet 2005 Oct 15;14(20):3035-46
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All: |
4 reference(s)
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Analysis Tools
