Cacna1f^tm1Ntbh
Targeted Allele Detail

Summary

• Symbol: Cacna1f^tm1Ntbh
• Name: calcium channel, voltage-dependent, alpha 1F subunit; targeted mutation 1, N Torben Bech-Hansen
• MGI ID: MGI:3609549
• Synonyms: Cacna1f^G305X
• Gene: Cacna1f Location: ChrX:7473342-7501435 bp, + strand Genetic Position: ChrX, 3.42 cM
• Alliance: Cacna1f^tm1Ntbh 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 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)

Disease models

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)