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Mkkstm1Vcs
Targeted Allele Detail
Nomenclature
Symbol: Mkkstm1Vcs
Name: McKusick-Kaufman syndrome; targeted mutation 1, Val C Sheffield
MGI ID: MGI:3526444
Synonyms: Bbs6-, Mkks-
Gene: Mkks  Location: Chr2:136873780-136891389 bp, - strand  Genetic Position: Chr2, 67.64 cM
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 detailsA targeting construct was designed to replace exon 3 with a neo. Northern blot of mutants confirmed absence of mRNA in kidneys. (J:99276)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 10 anatomical structures
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:  20 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory