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Acer2em1Mvw
Endonuclease-mediated Allele Detail
Summary
Symbol: Acer2em1Mvw
Name: alkaline ceramidase 2; endonuclease-mediated mutation 1, Jackson
MGI ID: MGI:5883755
Gene: Acer2  Location: Chr4:86792633-86853059 bp, + strand  Genetic Position: Chr4, 40.69 cM
Alliance: Acer2em1Mvw page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsA 452bp deletion removed the entire exon 2 and a large portion of the adjacent intron and western blot analysis failed to detect ACER2 protein in homozygotes. (J:256650)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 2 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Acer2 Mutation:  41 strains or lines available
References
Original:  J:256650 Li F, et al., Alkaline ceramidase 2 is essential for the homeostasis of plasma sphingoid bases and their phosphates. FASEB J. 2018 Jun;32(6):3058-3069
All:  4 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
11/12/2024
MGI 6.24
The Jackson Laboratory