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Alas2tm1Mym
Targeted Allele Detail
Nomenclature
Symbol: Alas2tm1Mym
Name: aminolevulinic acid synthase 2, erythroid; targeted mutation 1, Masayuki Yamamoto
MGI ID: MGI:2180151
Synonyms: ALAS-E-
Gene: Alas2  Location: ChrX:150547375-150570638 bp, + strand  Genetic Position: ChrX, 68.46 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  3 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory