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Phyhtm1Safe
Targeted Allele Detail
Nomenclature
Symbol: Phyhtm1Safe
Name: phytanoyl-CoA hydroxylase; targeted mutation 1, Sacha Ferdinandussea
MGI ID: MGI:3822777
Gene: Phyh  Location: Chr2:4919019-4938730 bp, + strand  Genetic Position: Chr2, 3.06 cM
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 detailsExons 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  8 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory