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| Nomenclature |
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Symbol:
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Spta1sph
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Name:
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spectrin alpha, erythrocytic 1;
spherocytosis
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MGI ID: |
MGI:1856377 |
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Synonyms: |
sph |
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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: | |
Intragenic deletion |
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Mutation details: The mutation in the sph mouse was identified as a single base pair deletion in exon 11 that causes a frame shift and premature stop codon.
(J:80999)
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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 original spherocytosis mutation arose in an unpedigreed C3H stock.
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| References |
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Original: |
J:12276
JOE M et al.,
"A new mutation (sph) causing neonatal jaundice in the house mouse."
Can J Genet Cytol 1962 Jun;4():219-25
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All: |
21 reference(s)
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Analysis Tools
