129S6(B6)-Sptb^m1Jus/MdfMmjax

Stock number: 012834
Research areas: Hematological Research, Internal/Organ Research

Description

These mice possess a spontaneous mutation in spectrin beta, erythrocytic (Sptb); on a mixed background, mice are anemic, exhibit hemolysis, enlarged spleens, hearts, livers and kidneys, irregular RBC morphology and model some characteristics of human SPTB. This mutant mouse strain may be useful in hematological research.

Detailed description

Homozygote: Mice that are homozygous for the mutation on a mixed C57BL/6 and 129S6/SvEvTac background are severely anemic, exhibit hemolysis, enlarged spleens, hearts, livers and kidneys; and have irregular RBC morphology with abnormal numbers of spherocytes and acanthocytes. These mice have similar characteristics to human patients with mutations in spectrin beta 1. This mutant mouse strain may be useful in hematological research.

Heterozygote: Normal

Development

This mutation arose spontaneously in a C57BL/6x129S6/SvEvTac F2 mapping panel in the laboratory of Dr. Monica Justice at Baylor College of Medicine. The affected mouse was backcrossed to 129S6/SvEvTac and then transferred to Dr. Mark Fleming at Children's Hospital Boston who continued the cross for 7 generations. The mutation was mapped in a CASTX129S6 cross and determined to be a deletion/rearrangement in exons 20-23 of the Spnb1 gene. PCR primers used to identify the mutation span a 3.7 kb genomic region, but amplify a 511 bp fragment. Dr. Fleming donated the strain to the MMRRC at The Jackson Laboratory in 2010. Upon arrival, mice were bred to 129S6 for at least 1 generation to establish the colony.

Allele

Symbol: Sptb^m1Jus
Name: mutation 1, Monica J Justice
MGI accession ID: MGI:4452390
Generation method: Spontaneous
Synonyms: hem11
Marker symbol: Sptb
Marker name: spectrin beta, erythrocytic
Marker synonyms: brain erythroid spectrin (235E); D330027P03Rik; EL3; HS2; HSPTB1; LOC383567; spectrin R; SPH2; Spnb1; Spnb-1
Chromosome: 12
Strain of origin: 129S6/SvEvTac
Molecular note: Mice exhibit a spontaneous deletion/rearrangement in exons 20-23.