Cacna1f^nob2
Spontaneous Allele Detail

Summary

• Symbol: Cacna1f^nob2
• Name: calcium channel, voltage-dependent, alpha 1F subunit; no b wave 2
• MGI ID: MGI:3605845
• Synonyms: Cav1.4^nob2, nob2
• Gene: Cacna1f Location: ChrX:7473342-7501435 bp, + strand Genetic Position: ChrX, 3.42 cM
• Alliance: Cacna1f^nob2 page

Mutation origin

• Strain of Origin: AXB6/PgnJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: Sequence analysis identifies this allele as an insertion of a transposable element in exon 2. The out-of-frame insertion produces a stop codon after synthesis of 32 amino acids. Immunofluorescent staining using an antibody directed to the C terminal of the subunit protein indicates that it is not expressed in the inner or outer plexiform layers of the retina. (J:123811)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 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:123811 Chang B, et al., The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci. 2006 Jan-Feb;23(1):11-24
• All: 6 reference(s)