Ehhadh^tm1Jkr
Targeted Allele Detail

Summary

• Symbol: Ehhadh^tm1Jkr
• Name: enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase; targeted mutation 1, Janardan K Reddy
• MGI ID: MGI:1857810
• Synonyms: L-PBE-, MFP1-
• Gene: Ehhadh Location: Chr16:21580037-21606557 bp, - strand Genetic Position: Chr16, 12.86 cM, cytoband B1
• Alliance: Ehhadh^tm1Jkr 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:55395
• Parent Cell Line: BK4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin selection cassette replaced part of intron 3 and all of exon 4. Northern blot analysis on RNA derived from liver of homozygous mice demonstrated that no detectable transcript is made from this allele. Western blot analysis on samples derived from liver of homozygous mice confirmed that no detectable encoded protein is produced from this allele. (J:55395)

Disease models

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 Ehhadh Mutation: 37 strains or lines available

Notes

Homozygotes are viable, fertile, and appear normal in growth and morphology. The liver and hepatocytes are normal. No hepatic fatty metamorphosis nor spontaneous peroxisome proliferation is seen in these mutant mice, as occurs in mice deficient for Acox1 (Acox1^tm1Jkr). Acox1 is the first enzyme in the classical pathway of peroxisomal beta-oxidation of fatty acids. The constitutive and induced levels of other fatty-acid metabolizing enzymes do not appear to be affected in mutants. In wild-type mice, ciprofibrate and Wy-14,643 induce peroxisome proliferation; this reaction, however, is blunted in Ehhadh^tm1Jkr mutants (J:55395).

References

• Original: J:55395 Qi C, et al., Absence of spontaneous peroxisome proliferation in enoyl-CoA Hydratase/L-3-hydroxyacyl-CoA dehydrogenase-deficient mouse liver. Further support for the role of fatty acyl CoA oxidase in PPARalpha ligand metabolism. J Biol Chem. 1999 May 28;274(22):15775-80
• All: 10 reference(s)