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

Symbol:	Ophn1Wtgr
Name:	oligophrenin 1; wavy tiger
MGI ID:	MGI:3720821
Gene:	Ophn1  Location: ChrX:97597883-97934631 bp, - strand  Genetic Position: ChrX, 42.94 cM, cytoband C2
Alliance:	Ophn1Wtgr page

Strain of Origin:

DBA/2J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: An A-to-C point mutation at coding nucleotide 1639 of the cDNA (NM_052976) results in a lysine to glutamine substitution at position 547 of the encoded protein (p.K547Q). (J:222308) Inheritance:    Dominant

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ophn1 Mutation:	10 strains or lines available

Original:	J:123336 Giggey J, et al., A new X-linked Dominant Mutation called Wavy Tiger. MGI Direct Data Submission. 2007;
All:	2 reference(s)