WB.D1-Spta1^sph-ha/BrkJ

Stock number: 000451
Product name: WB-hemolytic anemia
Research areas: Developmental Biology Research, Hematological Research

Description

These mice carry a spontaneous mutation at the Spta1 locus characterized by spherocytosis and some aspects of sickle cell anemia.

Detailed description

Homozygotes provide a molecular and phenotypic model of hereditary spherocytosis type 3 and a phenotypic model for hereditary spherocytosis type 1 and some aspects of sickle cell anemia. Most phenotypic assessment has been performed using F1 homozygous offspring of heterozygotes from the C57BL/6J and WB/Re congenic strains or homozygotes generated on a B6;WB segregating background. Approximately half die by 6 months of age. Homozygotes display hemolytic anemia with spherocytosis, microcytosis, reduced hematocrit, reticulocytisis, extramedullary hematopoiesis in the spleen and liver, lymphocytosis, neutrophilia, lymph node hyperlasia, and cardiac hypertrophy. Homozygotes can be identified within the first day of birth by their jaundiced color. Consequent to the underlying disorder, homozygotes are prone to developing gallstones, pneumonitis, and vaso-occulsive disease in multiple organs.

Development

The hymolytic anemia mutation arose spontaneously in the DBA/1J inbred strain at The Jackson Laboratory in approximately 1960. This mutation was backcrossed onto the C57BL/6J and WB/Re inbred backgrounds by Seldon Bernstein. The WB/Re congenic reached generation N5 in 1968, N9 in 1970, N24 in 1978, N34 in 1986 and was subsequently transferred to the colony of Dr. Jane Barker. In 2010 sperm were cryopreserved from heterozygous males at generation N81.

Allele

Symbol: Spta1^sph-ha
Name: hemolytic anemia
MGI accession ID: MGI:1856181
Generation method: Spontaneous
Marker symbol: Spta1
Marker name: spectrin alpha, erythrocytic 1
Chromosome: 1
Strain of origin: DBA/1J
Molecular note: The 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 2403 to a stop codon (p.Y2403*). This mutation truncates the protein by 13 amino acids.