Dnm2^Rbc12
Chemically induced Allele Detail

Summary

• Symbol: Dnm2^Rbc12
• Name: dynamin 2; red blood cell mutant 12
• MGI ID: MGI:7378850
• Synonyms: Dnm2^V235G, RBC12^M
• Gene: Dnm2 Location: Chr9:21336204-21419055 bp, + strand Genetic Position: Chr9, 7.79 cM
• Alliance: Dnm2^Rbc12 page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to G point mutation that results in a valine to glycine substitution at amino acid 235 (V235G), located within the GTPase domain. q-PCR from adult spleen shows normal mRNA expression while Western blot analysis indicates that protein levels in heterozygous splenocytes are approximately half that of wild-type. (J:330452)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Dnm2 Mutation: 100 strains or lines available

References

• Original: J:330452 Brown FC, et al., Loss of Dynamin 2 GTPase function results in microcytic anaemia. Br J Haematol. 2017 Aug;178(4):616-628
• All: 1 reference(s)