Krt75^tm1Der
Targeted Allele Detail

Summary

• Symbol: Krt75^tm1Der
• 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: Krt75^tm1Der 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 details: Exon 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)

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)