Mkks^tm1Vcs
Targeted Allele Detail

Summary

• Symbol: Mkks^tm1Vcs
• Name: McKusick-Kaufman syndrome; targeted mutation 1, Val C Sheffield
• MGI ID: MGI:3526444
• Synonyms: Bbs6^-, Mkks^-
• Gene: Mkks Location: Chr2:136715700-136733309 bp, - strand Genetic Position: Chr2, 67.64 cM
• Alliance: Mkks^tm1Vcs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:99276
• 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: A targeting construct was designed to replace exon 3 with a neo. Northern blot of mutants confirmed absence of mRNA in kidneys. (J:99276)

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Mkks Mutation: 27 strains or lines available

References

• Original: J:99276 Fath MA, et al., Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet. 2005 May 1;14(9):1109-18
• All: 9 reference(s)