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Ampd2m4521Dajl
Chemically induced Allele Detail
Summary
Symbol: Ampd2m4521Dajl
Name: adenosine monophosphate deaminase 2; mutation 4521 David J Lloyd
MGI ID: MGI:3848348
Synonyms: Ampd2m, B6m
Gene: Ampd2  Location: Chr3:107981378-107993967 bp, - strand  Genetic Position: Chr3, 46.83 cM
Alliance: Ampd2m4521Dajl page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a G to T transversion that results in the amino acid substitution of alanine to serine at position 341 (A341S). Western blot analysis confirmed the absence of protein expression in the liver of homozygotes and partial loss in the liver of heterozygotes. (J:223083)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Ampd2 Mutation:  45 strains or lines available
References
Original:  J:149088 Juan T, et al., Identification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in mice. J Lipid Res. 2009 Mar;50(3):534-45
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory