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

Symbol:	Phyhtm1Safe
Name:	phytanoyl-CoA hydroxylase; targeted mutation 1, Sacha Ferdinandussea
MGI ID:	MGI:3822777
Gene:	Phyh  Location: Chr2:4923830-4943541 bp, + strand  Genetic Position: Chr2, 3.06 cM
Alliance:	Phyhtm1Safe page

Germline Transmission:	Earliest citation of germline transmission: J:142512
Parent Cell Line:	IB10/E14IB10 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 4 through 7 were replaced with a hygro cassette. The absence of transcript expression was confirmed by RT-PCR analysis on liver extracts and the absence of protein expression was confirmed by western blot analysis and complete loss of specific enzyme activity. (J:142512)

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

In Structures Affected by this Mutation:

5 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 Phyh Mutation:	23 strains or lines available

Original:	J:142512 Ferdinandusse S, et al., Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):17712-7
All:	1 reference(s)