Mks1^hlb614
Chemically induced Allele Detail

Summary

• Symbol: Mks1^hlb614
• Name: MKS transition zone complex subunit 1; heart, lung and blood 614
• MGI ID: MGI:4887578
• Synonyms: Mks1^del64-323
• Gene: Mks1 Location: Chr11:87744041-87754629 bp, + strand Genetic Position: Chr11, 52.24 cM
• Alliance: Mks1^hlb614 page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Intragenic deletion
• Mutation details: ENU mutagenesis induced a deletion of 5226 bases spanning intron 2 to intron 10. The predicted protein lacks amino acids 64 through 323. (J:167534)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

21 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:167534 Cui C, et al., Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech. 2011 Jan;4(1):43-56
• All: 1 reference(s)