Kif23^tm1.1Igo
Targeted Allele Detail

Summary

• Symbol: Kif23^tm1.1Igo
• Name: kinesin family member 23; targeted mutation 1.1, Irina Golovleva
• MGI ID: MGI:7522151
• Synonyms: Kif23^P909R
• Gene: Kif23 Location: Chr9:61824559-61854078 bp, - strand Genetic Position: Chr9, 33.5 cM
• Alliance: Kif23^tm1.1Igo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:321429
• Parent Cell Line: iTL IC1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: An A to G change at position 2726 (c.2726C>G) resulting in a proline to arginine substitution at amino acid 909 (p.P909R) was introduced in exon 21 and an FRT-flanked neomycin selection cassette was also inserted. The neomycin selection cassette was removed via flp-mediated recombination. This mutation corresponds to the human c.2747C>G, p.P916R mutation causing congenital dyserythropoietic anemia type III. Mice were screened for the Crb1 c.3841delC mutation known as a cause of retinal dystrophy and do not contain this mutation. (J:321429)

Disease models

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 Kif23 Mutation: 46 strains or lines available

References

• Original: J:321429 Vikberg AL, et al., Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III. Blood Cells Mol Dis. 2020 Nov;85:102483
• All: 1 reference(s)