Alas2^tm1Mym
Targeted Allele Detail

Summary

• Symbol: Alas2^tm1Mym
• Name: aminolevulinic acid synthase 2, erythroid; targeted mutation 1, Masayuki Yamamoto
• MGI ID: MGI:2180151
• Synonyms: ALAS-E^-
• Gene: Alas2 Location: ChrX:149330443-149353614 bp, + strand Genetic Position: ChrX, 68.46 cM
• Alliance: Alas2^tm1Mym page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:58508
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin selection cassette was used to replace a region including the the 5' portion of exon 8 and the 3' portion of exon 9, which encodes a lysine residue essential for binding pyridoxal 5'-phosphate (PLP). RT-PCR analysis showed an absence of message in hemizygous mutant embryos. (J:58508)

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 Alas2 Mutation: 4 strains or lines available

Notes

Adult chimeric mice contain typical ring sideroblasts in the bone marrow and circulating blood as seen in humans with X-linked sideroblastic anema (OMIM:30075) (J: 58508).

References

• Original: J:58508 Nakajima O, et al., Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. EMBO J. 1999 Nov 15;18(22):6282-9
• All: 2 reference(s)