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Hadhatm1Jib
Targeted Allele Detail
Summary
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:69846
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 12 assay results
In Structures Affected by this Mutation: 4 anatomical structure(s)
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 Hadha Mutation:  33 strains or lines available
References
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)

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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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory