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Cacna1htm1Kcam
Targeted Allele Detail
Summary
Symbol: Cacna1htm1Kcam
Name: calcium channel, voltage-dependent, T type, alpha 1H subunit; targeted mutation 1, Kevin P Campbell
MGI ID: MGI:2682015
Synonyms: alpha13.2-, Cav3.2-
Gene: Cacna1h  Location: Chr17:25593259-25652759 bp, - strand  Genetic Position: Chr17, 12.53 cM
Alliance: Cacna1htm1Kcam page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:86616
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 6, which encodes residues 216 through 267, was replaced with a floxed neo cassette inserted by homologous recombination. Transcript was undetected by Northern blot analysis of RNA obtained from homozygous mutant testes. Similarly, Western blot analysis of extracts from homozygous mutant brain tissue indicated an absence of normal protein. (J:86616)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 9 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Cacna1h Mutation:  98 strains or lines available
References
Original:  J:86616 Chen CC, et al., Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels. Science. 2003 Nov 21;302(5649):1416-8
All:  52 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