Sptb^ja
Spontaneous Allele Detail

Summary

• Symbol: Sptb^ja
• Name: spectrin beta, erythrocytic; jaundiced
• MGI ID: MGI:1856378
• Synonyms: ja
• Gene: Sptb Location: Chr12:76627262-76757321 bp, - strand Genetic Position: Chr12, 33.73 cM
• Alliance: Sptb^ja page

Mutation origin

• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A C-to-T transition mutation is present in the mutant transcript and produces a premature stop codon from an arginine codon 1160 in the part of the mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160 (p.R1160*). (J:21284)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

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: 85 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(1):35-9
• All: 11 reference(s)