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Spta1sph-4J
Chemically induced Allele Detail
Summary
Symbol: Spta1sph-4J
Name: spectrin alpha, erythrocytic 1; spherocytosis 4 Jackson
MGI ID: MGI:3798219
Synonyms: nmf4
Gene: Spta1  Location: Chr1:174000342-174076016 bp, + strand  Genetic Position: Chr1, 80.97 cM
Alliance: Spta1sph-4J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsA guanine to adenine transversion in exon 52 results in a cysteine to tyrosine substitution in the C-terminal EF Hand domain (C2384Y). (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: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Spta1 Mutation:  147 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
10/29/2024
MGI 6.24
The Jackson Laboratory