Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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: Chr18:50261268-50329336 bp, + strand  Genetic Position: Chr18, 27.24 cM Alliance: Hsd17b4tm1Baes page

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Hsd17b4 Mutation:	50 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:	19 reference(s)