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Targeted Allele Detail
Symbol: Ehhadhtm1Jkr
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: Chr16:21761287-21787807 bp, - strand  Genetic Position: Chr16, 12.86 cM, cytoband B1
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:55395
Parent Cell Line:  BK4 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
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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:  3 strains or lines available
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 (Acox1tm1Jkr). 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 Ehhadhtm1Jkr mutants (J:55395).
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:  8 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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MGI 6.16
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