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Cacna1ftm1Ntbh
Targeted Allele Detail
Summary
Symbol: Cacna1ftm1Ntbh
Name: calcium channel, voltage-dependent, alpha 1F subunit; targeted mutation 1, N Torben Bech-Hansen
MGI ID: MGI:3609549
Synonyms: Cacna1fG305X
Gene: Cacna1f  Location: ChrX:7473342-7501435 bp, + strand  Genetic Position: ChrX, 3.42 cM
Alliance: Cacna1ftm1Ntbh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:102753
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsAn 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)
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: 4 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: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
All:  7 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