Cacna1a^tg-la
Spontaneous Allele Detail

Summary

• Symbol: Cacna1a^tg-la
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; leaner
• MGI ID: MGI:1856210
• Synonyms: Cacna1a^la, Ln, tg^la
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tg-la page

Mutation origin

• Strain of Origin: AKR/J

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: This mutant allele comprises a G-to-A nucleotide substitution, changing the splice donor consensus sequence at the 5' end of intron 42 from G-gt to G-at. This abolishes or greatly reduces the efficiency of the splice site and results in aberrant transcripts that skip exon 42 or retain intron 42, both of wich are out-of-frame alterations. (J:36596)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:

36 assay results

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 Cacna1a Mutation: 118 strains or lines available

Notes

Cacna1a^tg-la, leaner, recessive. The leaner mutation arose spontaneously in the AKR/J strain. Homozygotes are recognized at 8 to 10 days of age by ataxia, stiffness, and retarded motor activity. Adults are characterized by instability of the trunk, and hypertonia of trunk and limb muscles. Seizures have not been observed (J:28459). Heterozygous Cacna1a^tg-la/Cacna1a^tg mice show ataxia, stiffness, and retarded motor activity at 15 to 17 days of age. Within a few days they develop a wobbly gait and intermittent focal seizures that continue throughout life (J:5240). The cerebellum is reduced in size, particularly in the anterior region, in Cacna1a^tg-la homozygous mice (J:28459). There is loss of granule cells beginning at 10 days of age and loss of Purkinje and Golgi cells beginning after 1 month. Cell loss later slows but continues throughout life. Granule and Purkinje cells are more severely affected than Golgi cells and the anterior folia more severely affected than other parts of the cerebellum (J:6909). Heckroth and Abbott (J:20921) found loss of Purkinje cells from alternating sagittal zones of the cerebellum in Cacna1a^tg-la homozygotes. The cerebellum of Cacna1a^tg-la/Cacna1a^tg heterozygotes shows shrinkage and degenerative changes of the Purkinje cells (J:5240). The loss in cerebellar volume in these and in homozygous Cacna1a^tg mice is specific to the molecular layer, with no change in volume of the granule cell or white matter layers (J:22482). Many Cacna1a^tg-la homozygotes die at weaning time, but some survive and females may breed (J:28459).

References

• Original: J:13510 Southard JL, Leaner (la). Mouse News Lett. 1970;43:33
• All: 44 reference(s)