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Dmtntm1Ahc
Targeted Allele Detail
Summary
Symbol: Dmtntm1Ahc
Name: dematin actin binding protein; targeted mutation 1, Athar H Chishti
MGI ID: MGI:2447353
Synonyms: HPKO
Gene: Dmtn  Location: Chr14:70839624-70873488 bp, - strand  Genetic Position: Chr14, 36.32 cM
Alliance: Dmtntm1Ahc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:76575
Parent Cell Line:  AK7 (ES Cell)
Strain of Origin:  129S4/SvJaeSor
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 11 through 15 were replaced with a neomycin selection cassette inserted by homologous recombination. The deleted sequence encoded the carboxy terminal headpiece domain of the endogenous protein. RT-PCR analysis of kidney and brain tissues indicated an absence of normal transcript in homozygous mutant mice. A single truncated peptide species, corresponding to the targeted deletion, was identified in homozygous mutant mice by Western blot analysis. (J:76575)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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 Dmtn Mutation:  160 strains or lines available
References
Original:  J:76575 Khanna R, et al., Headpiece domain of dematin is required for the stability of the erythrocyte membrane. Proc Natl Acad Sci U S A. 2002 May 14;99(10):6637-42
All:  4 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
12/10/2024
MGI 6.24
The Jackson Laboratory