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| Nomenclature |
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Symbol:
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Sptbja
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Name:
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spectrin beta, erythrocytic;
jaundiced
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MGI ID: |
MGI:1856378 |
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Synonyms: |
ja |
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Gene:
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Sptb
Location:
Chr12:76580488-76710547 bp, - strand
Genetic Position: Chr12,
33.73 cM
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Mutation origin |
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Mutation description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A C-to-T transition mutation is present in the mutant transcript and produces a premature stop codon from an arginine codon in mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160. (J:21284)
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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:305
Stevens LC et al.,
"A mutation causing neonatal jaundice in the house mouse"
J Hered 1959;50():35-9
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All: |
11 reference(s)
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