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

Symbol:	Mks1avc6
Name:	MKS transition zone complex subunit 1; atrioventricular canal 6
MGI ID:	MGI:4821832
Gene:	Mks1  Location: Chr11:87744041-87754629 bp, + strand  Genetic Position: Chr11, 52.24 cM
Alliance:	Mks1avc6 page

Strain of Origin:

C57BL/6J

Allele Type:    Chemically induced (ENU) (Null/knockout) Mutation:    Single point mutation   Mutation details: The causative mutation is a nonsense mutation, C-to-T transition at g.87853328. The C-to-T transition results in an arginine being converted to a premature stop codon, p.Arg27*. (J:237132)

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

In Mice Carrying this Mutation:

3 assay results

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 Mks1 Mutation:	29 strains or lines available

Original:	J:163196 Kamp A, et al., Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet. 2010 Aug 15;19(16):3105-13
All:	2 reference(s)