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

Symbol:	NhsXcat
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:	NhsXcat page

Strain of Origin:

DBA/2

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

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

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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:	19 strains or lines available

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)