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Krt75tm1Der
Targeted Allele Detail
Summary
Symbol: Krt75tm1Der
Name: keratin 75; targeted mutation 1, Dennis R Roop
MGI ID: MGI:3762626
Gene: Krt75  Location: Chr15:101471780-101482339 bp, - strand  Genetic Position: Chr15, 56.91 cM
Alliance: Krt75tm1Der page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:127018
Parent Cell Line:  W4 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Dominant negative, Humanized sequence)
Mutation:    Intragenic deletion
 
Mutation detailsExon 1 was replaced with a version of exon 1 in which the asparagine at position 159 was deleted. A floxed cre cassette that was inserted downstream of exon 1 for selection purposes was removed by cre-mediated recombination using a transient cre expressing plasmid. The authors state that this mutation should produce a dominant negative protein. Expression of only the modified transcript was confirmed by RT-PCR analysis. (J:127018)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structure(s)
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 Krt75 Mutation:  28 strains or lines available
References
Original:  J:127018 Chen J, et al., Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling Pachyonychia Congenita. J Invest Dermatol. 2008 Feb;128(2):270-9
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
11/19/2024
MGI 6.24
The Jackson Laboratory