Mlh1^tm1Wed
Targeted Allele Detail

Summary

• Symbol: Mlh1^tm1Wed
• Name: mutL homolog 1; targeted mutation 1, Winfried Edelmann
• MGI ID: MGI:3783409
• Synonyms: Mlh1^G67R
• Gene: Mlh1 Location: Chr9:111057296-111100854 bp, - strand Genetic Position: Chr9, 60.92 cM
• Alliance: Mlh1^tm1Wed page

Mlh1^tm1Wed/Mlh1^tm1Wed mouse testes show spermatogenic failure at or before metaphase of the first meiotic division

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:133352
• Parent Cell Line: WW6 (ES Cell)
• Strain of Origin: STOCK 129/Sv and C57BL/6J and SJL

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 2 was replaced with an exon 2 that contained a nucleotide substitution that resulted in an amino acid substitution of arginine for glycine at position 67 (G67R). This substitition occurs within the ATPase domain. A floxed neo cassette was also inserted into intron 1 but was subsequently removed by germ-line, cre-mediated recombination. (J:133352)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Mlh1 Mutation: 44 strains or lines available

References

• Original: J:133352 Avdievich E, et al., Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4247-52
• All: 3 reference(s)