Chp1^vac
Chemically induced Allele Detail

Summary

• Symbol: Chp1^vac
• Name: calcineurin-like EF hand protein 1; vacillator
• MGI ID: MGI:5529475
• Synonyms: vac
• Gene: Chp1 Location: Chr2:119378178-119417508 bp, + strand Genetic Position: Chr2, 59.97 cM
• Alliance: Chp1^vac page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: An A to G transition was found in exon 6 at nucleotide 657, resulting in a glycine at codon 168 instead of an aspartic acid. This amino acid change occurs in the z position of the fourth EF hand of the protein in one of six residues involved in calcium binding. The base pair change also creates a novel splice donor site resulting in the expression of two abnormal transcripts. Both abnormal transcripts result in frameshifts that delete the second half of EF4. Quantitative real-time RT-PCR confirms the expression of all three transcripts in the cerebellum, with the correctly spliced missense transcript constituting about 30% of all transcripts. Western blot analysis detects 2 bands in cerebellar lysates from homozygous mutant mice but only 1 band in wild-type mice and an overall 70% reduction in protein levels in homozygous mutants compared to wild-type mice. (J:199873)
• Inheritance: Not Specified

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 Chp1 Mutation: 20 strains or lines available

References

• Original: J:199873 Liu Y, et al., CHP1-Mediated NHE1 Biosynthetic Maturation Is Required for Purkinje Cell Axon Homeostasis. J Neurosci. 2013 Jul 31;33(31):12656-69
• All: 2 reference(s)