Chp1vac
Chemically induced Allele Detail
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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
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Alliance: |
Chp1vac page
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Allele Type: |
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Chemically induced (ENU) (Hypomorph) |
Mutation: |
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Single point mutation
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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)
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Inheritance: |
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Not Specified |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Chp1 Mutation: |
21 strains or lines available
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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) |
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