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

Symbol:	Hadhatm1Jib
Name:	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha; targeted mutation 1, Jamal A Ibdah
MGI ID:	MGI:2137697
Synonyms:	Mtpa-
Gene:	Hadha  Location: Chr5:30324421-30359978 bp, - strand  Genetic Position: Chr5, 15.95 cM
Alliance:	Hadhatm1Jib page

Germline Transmission:	Earliest citation of germline transmission: J:69846
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance cassette replaced 1.6kb of sequence containing exon 1, flanking 5' sequences, and part of intron 1. Northern blot analysis of total RNA did not detect mRNA in liver and heart of homozygous mutant newborn pups. Western blot analysis did not detect protein in extracts of liver and heart tissue of homozygous mutant newborn pups. (J:69846)

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

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

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 Hadha Mutation:	33 strains or lines available

Original:	J:69846 Ibdah JA, et al., Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest. 2001 Jun;107(11):1403-9
All:	5 reference(s)