Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Mkkstm1Vcs
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:	Mkkstm1Vcs page

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

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

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)