Cacna2d4^lob
Spontaneous Allele Detail

Summary

• Symbol: Cacna2d4^lob
• Name: calcium channel, voltage-dependent, alpha 2/delta subunit 4; loss of b-wave
• MGI ID: MGI:3665263
• Synonyms: c.2451insC
• Gene: Cacna2d4 Location: Chr6:119213487-119329368 bp, + strand Genetic Position: Chr6, 56.62 cM
• Alliance: Cacna2d4^lob page

Mutation origin

• Strain of Origin: C57BL/10

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Insertion
• Mutation details: A frameshift mutation caused by an insertion of a C residue at nt 2367 was identified. The mutation introduces a premature stop codon that truncates one third of the predicted encoded protein. A severe reduction in expressed transcript levels observed in mutant retinas probably results in the lack of encoded protein. (J:112267)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cacna2d4 Mutation: 76 strains or lines available

References

• Original: J:65548 Ruether K, et al., Abnormalities of the photoreceptor-bipolar cell synapse in a substrain of C57BL/10 mice. Invest Ophthalmol Vis Sci. 2000 Nov;41(12):4039-47
• All: 5 reference(s)