Cacna1f^tm1Sdie
Targeted Allele Detail

Summary

• Symbol: Cacna1f^tm1Sdie
• 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
• Alliance: Cacna1f^tm1Sdie page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:146683
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A loxP site was inserted into intron 13, and an FRT site flanked neomycin resistance gene cassette and a second loxP site were inserted into intron 17. Exon 17 contains nucleotide substitutions that result in the amino acid substitution of isoleucine with threonine at position 756 (p.I756T) which corresponds to the same human mutation found in patients with an X-linked retinal disorder. (J:146683)

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: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)