Hsd17b4^tm1Baes
Targeted Allele Detail

Summary

• Symbol: Hsd17b4^tm1Baes
• 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: Hsd17b4^tm1Baes page

Growth retardation and hypotonia in Ehhadh^tm1Jkr/Ehhadh^tm1Jkr Hsd17b4^tm1Baes/Hsd17b4^tm1Baes mice

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

Mutation origin

• 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⁺

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• 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: 51 strains or lines available

References

• 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)