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| Nomenclature |
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Symbol:
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Phyhtm1Safe
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Name:
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phytanoyl-CoA hydroxylase;
targeted mutation 1, Sacha Ferdinandussea
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MGI ID: |
MGI:3822777 |
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Gene:
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Phyh
Location:
Chr2:4919019-4938730 bp, + strand
Genetic Position: Chr2,
3.06 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:142512
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Parent Cell Line:
| IB10/E14IB10 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Phyh Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
