Nhs^Xcat
Radiation induced Allele Detail

Summary

• Symbol: Nhs^Xcat
• Name: NHS actin remodeling regulator; X-linked cataract
• MGI ID: MGI:1861111
• Synonyms: D-454
• Gene: Nhs Location: ChrX:160616286-160942437 bp, - strand Genetic Position: ChrX, 74.17 cM
• Alliance: Nhs^Xcat page

Mutation origin

• Strain of Origin: DBA/2

Mutation description

• Allele Type: Radiation induced
• Mutation: Insertion
• Mutation details: A 487 kb insertion into the gene between exons 1 and 2 disrupts the expression of a transcript containing exon 1. The insertion appears to be a duplication and translocation of a more proximal region of chromosome X. A transcript is expressed from an alternate promoter of the gene and results in a protein product that lacks cytoplasmic localization signals and is transported to the nucleus. Total transcript levels are also reduced. (J:104492)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	3 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 Nhs Mutation: 20 strains or lines available

Notes

The X-linked cataract mutation Xcat was found among offspring of an irradiated male in a dominant cataract mutation rate experiment.

References

• Original: J:14118 Favor J, et al., Position of Xcat, a new X-linked cataract mutation. Mouse News Lett. 1987;77:139
• All: 8 reference(s)