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Cacna1ftm1Sdie
Targeted Allele Detail
Nomenclature
Symbol: Cacna1ftm1Sdie
Name: calcium channel, voltage-dependent, alpha 1F subunit; targeted mutation 1, Susanne tom Dieck
MGI ID: MGI:3838716
Gene: Cacna1f  Location: ChrX:7473342-7501435 bp, + strand  Genetic Position: ChrX, 3.42 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:146683
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA loxP site was inserted upstream of exon 14, and an frt flanked neo cassette with 3' loxP site was inserted downstream of exon 17. This exon contains nucleotide substitutions that result in the amino acid substitution of threonine for isoleucine at position 756 which corresponds to the human I745T mutation found in human patients with an X-linked retinal disorder. (J:146683)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  18 strains or lines available
References
Original:  J:146683 Specht D, et al., Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses. Invest Ophthalmol Vis Sci. 2009 Feb;50(2):505-15
All:  2 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
11/23/2021
MGI 6.17
The Jackson Laboratory