Phyh^tm1Safe
Targeted Allele Detail

Summary

• Symbol: Phyh^tm1Safe
• 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: Phyh^tm1Safe page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Phyh Mutation: 23 strains or lines available

References

• 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)