About   Help   FAQ
The MGI survey is now closed.
Thanks for your support!
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
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/20/2015
MGI 5.21
The Jackson Laboratory