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Chp1vac
Chemically induced Allele Detail
Summary
Symbol: Chp1vac
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: Chp1vac page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsAn 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  21 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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory