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Sptbja
Spontaneous Allele Detail
Nomenclature
Symbol: Sptbja
Name: spectrin beta, erythrocytic; jaundiced
MGI ID: MGI:1856378
Synonyms: ja
Gene: Sptb  Location: Chr12:76580488-76710547 bp, - strand  Genetic Position: Chr12, 33.73 cM
Mutation
origin
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA C-to-T transition mutation is present in the mutant transcript and produces a premature stop codon from an arginine codon in mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160. (J:21284)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Sptb Mutation:  45 strains or lines available
References
Original:  J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50:35-9
All:  11 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