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Spta1sph-ha
Spontaneous Allele Detail
Nomenclature
Symbol: Spta1sph-ha
Name: spectrin alpha, erythrocytic 1; hemolytic anemia
MGI ID: MGI:1856181
Synonyms: ha, sph1J, Sph-J
Gene: Spta1  Location: Chr1:174172776-174248450 bp, + strand  Genetic Position: Chr1, 80.97 cM
Mutation
origin
Strain of Origin:  DBA/1J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe mutation in the sph-ha mouse (also known as sph-J) was identified as a C to A transversion in exon 52 that converts a tyrosine to a stop codon. This mutation truncates the protein by 13 amino acids. (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: 12 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:  79 strains or lines available
References
Original:  J:24729 Bernstein S, New mutant: Hemolytic anemia - ha. Mouse News Lett. 1960;23:33
All:  18 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
06/12/2018
MGI 6.12
The Jackson Laboratory