Tpi1^rbc19
Chemically induced Allele Detail

Summary

• Symbol: Tpi1^rbc19
• Name: triosephosphate isomerase 1; red blood cell mutant 19
• MGI ID: MGI:6188634
• Synonyms: RBC19, Tpi1^F57S
• Gene: Tpi1 Location: Chr6:124787549-124791121 bp, - strand Genetic Position: Chr6, 59.17 cM
• Alliance: Tpi1^rbc19 page

Mutation origin

• Strain of Origin: SJL

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to C mutation at position c170 in the first exon, resulting in a phenylalanine to serine mutation at amino acid 57. RT-PCR shows no difference in mRNA expression levels compared to wild-type, however, Western blot analysis indicates a significant reduction of protein in the bone marrow of homozygotes. TPI1 enzyme activity is 10%, 12%, 13% and 16% of wild-type levels in red blood cells, in the brain, in bone marrow-derived macrophages, and in unsorted bone marrow, respectively. (J:263104)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tpi1 Mutation: 24 strains or lines available

References

• Original: J:263104 Conway AJ, et al., Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency. Dis Model Mech. 2018 May 21;11(5):dmm034678
• All: 1 reference(s)