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Spta1sph-2Bc
Spontaneous Allele Detail
Nomenclature
Symbol: Spta1sph-2Bc
Name: spectrin alpha, erythrocytic 1; spherocytosis 2 British Columbia
MGI ID: MGI:1856180
Synonyms: sph2Bc
Gene: Spta1  Location: Chr1:174172776-174248450 bp, + strand  Genetic Position: Chr1, 80.97 cM
Mutation
origin
Strain of Origin:  mixed
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe 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)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Spta1 Mutation:  11 strains or lines available
Notes
This allele arose from a mixed SELH stock at the University of British Columbia in 1983.
References
Original:  J:64113 Juriloff DM, Spna1 - spherocytosis-2Bc. Mouse News Lett. 1983;68:59
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory