Mks1^krc
Chemically induced Allele Detail

Summary

• Symbol: Mks1^krc
• Name: MKS transition zone complex subunit 1; kerouac
• MGI ID: MGI:4410614
• Synonyms: krc
• Gene: Mks1 Location: Chr11:87744041-87754629 bp, + strand Genetic Position: Chr11, 52.24 cM
• Alliance: Mks1^krc page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU induced a T to C transition in the splice donor site within intron 5 (c.515+6T>C) causing a 21 bp insertion with an inframe nonsense codon (E173Stop). The absence of wild-type transcript was confirmed by RT-PCR. The predicted protein is truncated after 172 of 561 amino acids prior to the B9 domain. (J:154075)

Disease models

Expression

In Mice Carrying this Mutation:	33 assay results
In Structures Affected by this Mutation:	29 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 Mks1 Mutation: 29 strains or lines available

References

• Original: J:154075 Weatherbee SD, et al., A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet. 2009 Dec 1;18(23):4565-75
• All: 2 reference(s)