Tgm1^tm1Kfyn
Targeted Allele Detail

Summary

• Symbol: Tgm1^tm1Kfyn
• Name: transglutaminase 1, K polypeptide; targeted mutation 1, Kiyofumi Yamanishi
• MGI ID: MGI:2179115
• Synonyms: Tgase 1-
• Gene: Tgm1 Location: Chr14:55937466-55951378 bp, - strand Genetic Position: Chr14, 28.19 cM, cytoband C1
• Alliance: Tgm1^tm1Kfyn page

Epidermal abnormalities in Tgm1^tm1Kfyn/Tgm1^tm1Kfyn mice

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:45653
• 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 details: Exons 1-3 containing the translation initiation codon and membrane anchoring signal were replaced with a neomycin gene via homologous recombination. Gene expression was absent in skin from homozygous mutant neonates via Northern blot analysis. (J:45653)

Disease models

Expression

In Mice Carrying this Mutation:	24 assay results
In Structures Affected by this Mutation:	3 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 Tgm1 Mutation: 52 strains or lines available

References

• Original: J:45653 Matsuki M, et al., Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc Natl Acad Sci U S A. 1998 Feb 3;95(3):1044-9
• All: 6 reference(s)