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Targeted Allele Detail
Symbol: Hsd17b4tm1Baes
Name: hydroxysteroid (17-beta) dehydrogenase 4; targeted mutation 1, Myriam Baes
MGI ID: MGI:2385822
Synonyms: D-PBE-, MFP-2-, MFP2-
Gene: Hsd17b4  Location: Chr18:50128201-50196269 bp, + strand  Genetic Position: Chr18, 27.24 cM
Growth retardation and hypotonia in Ehhadhtm1Jkr/Ehhadhtm1Jkr Hsd17b4tm1Baes/Hsd17b4tm1Baes mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:62314
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 7 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 Hsd17b4 Mutation:  0 strains or lines available
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
All:  15 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory