Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:76575
Parent Cell Line:	AK7 (ES Cell)
Strain of Origin:	129S4/SvJaeSor

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

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)