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Allele : Alas2<tm1Mym> aminolevulinic acid synthase 2, erythroid; targeted mutation 1, Masayuki Yamamoto

Primary Identifier  MGI:2180151 Allele Type  Targeted
Attribute String  Null/knockout Gene  Alas2
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
description  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).
molecularNote  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.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • ALAS-E<->,
  • ALAS-E<->
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories