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Spta1sph-3J
Spontaneous Allele Detail
Nomenclature
Symbol: Spta1sph-3J
Name: spectrin alpha, erythrocytic 1; spherocytosis 3 Jackson
MGI ID: MGI:3621484
Gene: Spta1  Location: Chr1:174000342-174076016 bp, + strand  Genetic Position: Chr1, 80.97 cM
Mutation
origin
Strain of Origin:  NOD/ShiLtJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe mutation is a C-to-T transition in exon 43 that results in substitution of histidine with tyrosine at amino acid position 2012 (p.H2012Y). (J:157766)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Spta1 Mutation:  85 strains or lines available
References
Original:  J:157766 Robledo RF, et al., Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in {alpha}-spectrin-deficient red cells. Blood. 2010 Mar 4;115(9):1804-14
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory