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| Nomenclature |
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Symbol:
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Spta1sph-2Bc
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Name:
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spectrin alpha, erythrocytic 1;
spherocytosis 2 British Columbia
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MGI ID: |
MGI:1856180 |
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Synonyms: |
sph2Bc |
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Gene:
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Spta1
Location:
Chr1:174172776-174248450 bp, + strand
Genetic Position: Chr1,
80.97 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: The mutation in the sph-BC mouse was identified as a G to T in transversion in the first nucleotide of intron 41. This mutation causes a splicing defect that results in the skipping of exon 41 causing the deletion of 54 amino acids as well as a frameshift and a premature stop codon.
(J:81125)
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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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Notes |
This allele arose from a mixed SELH stock at the University of British Columbia in 1983.
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| References |
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Original: |
J:64113
Juriloff DM,
"Spna1<sph-2Bc> - spherocytosis-2Bc"
Mouse News Lett 1983;68():59
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All: |
7 reference(s)
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Analysis Tools
