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| Nomenclature |
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Symbol:
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Spta1sph-Dem
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Name:
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spectrin alpha, erythrocytic 1;
spherocytosis-Demant
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MGI ID: |
MGI:2388936 |
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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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Strain of Origin:
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CcS3/Dem
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Transposon insertion |
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Mutation details: Sequence analysis of genomic DNA shows this allele is the result of an intracisternal A particle transposon insertion into intron 10 of the erythroid alpha-spectrin gene. This leads to abnormal splicing and an in-frame deletion of 46 amino acids from repeat 5 of alpha spectrin. (J:66966)
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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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| 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:66966
Wandersee NJ et al.,
"Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis."
Blood 2001 Jan 15;97(2):543-50
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All: |
3 reference(s)
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Analysis Tools
