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| Nomenclature |
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Symbol:
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Hsd17b4tm1Baes
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Name:
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hydroxysteroid (17-beta) dehydrogenase 4;
targeted mutation 1, Myriam Baes
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MGI ID: |
MGI:2385822 |
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Synonyms: |
D-PBE-, MFP-2-, MFP2- |
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Gene:
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Hsd17b4
Location:
Chr18:50128201-50196269 bp, + strand
Genetic Position: Chr18,
27.24 cM
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Growth retardation and hypotonia in Ehhadhtm1Jkr/Ehhadhtm1Jkr Hsd17b4tm1Baes/Hsd17b4tm1Baes mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:62314
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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: The gene was disrupted by homologous recombination of exons 1-3 with a neomycin resistance cassette resulting in deletion of the hydratase and dehydrogenase activites of the protein. Absence of gene expression in liver of homozygous mutant animals was demonstrated by Northern and Western blot analysis. Hydratase activity was undetectable in liver homogenates from homozygous mutants. (J:62314)
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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 Hsd17b4 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:62314
Baes M et al.,
"Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids."
J Biol Chem 2000 May 26;275(21):16329-36
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All: |
10 reference(s)
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Analysis Tools
