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Spta1sph
Spontaneous Allele Detail
Nomenclature
Symbol: Spta1sph
Name: spectrin alpha, erythrocytic 1; spherocytosis
MGI ID: MGI:1856377
Synonyms: sph
Gene: Spta1  Location: Chr1:174172776-174248450 bp, + strand  Genetic Position: Chr1, 80.97 cM
Mutation
origin
Strain of Origin:  C3H
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation in the sph mouse was identified as a single base pair deletion in exon 11 that causes a frame shift and premature stop codon. (J:80999)
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: 13 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
Notes
This original spherocytosis mutation arose in an unpedigreed C3H stock.
References
Original:  J:12276 JOE M, et al., A new mutation (sph) causing neonatal jaundice in the house mouse. Can J Genet Cytol. 1962 Jun;4:219-25
All:  21 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