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| Nomenclature |
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Symbol:
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Acadsdel-J
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Name:
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acyl-Coenzyme A dehydrogenase, short chain;
deletion, Jackson
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MGI ID: |
MGI:3029768 |
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Synonyms: |
Bcd-1c, Scad |
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Gene:
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Acads
Location:
Chr5:115110299-115119346 bp, - strand
Genetic Position: Chr5,
55.99 cM
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Mutation
origin |
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Strain of Origin:
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BALB/cByJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: A 278bp deletion occurs which starts in intron "A" and includes exon "B" and the first 78bp of exon "C". As a result of this deletion, mRNA transcription is reduced to about 35% of normal and includes two forms, a longer normal length transcript and a shorter misspliced form. If these mRNAs were translated they both would result in truncated products. Protein product is undetectable immunologically and there is a total absence of enzyme activity. (J:12776, J:50729)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:14707
Wood PA et al.,
"Short-chain acyl-coenzyme A dehydrogenase deficiency in mice."
Pediatr Res 1989 Jan;25(1):38-43
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All: |
17 reference(s)
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Analysis Tools
