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Sar1bem1Emle
Endonuclease-mediated Allele Detail
Summary
Symbol: Sar1bem1Emle
Name: secretion associated Ras related GTPase 1B; endonuclease-mediated mutation 1, Emile Levy
MGI ID: MGI:7331421
Synonyms: Sar1bdel
Gene: Sar1b  Location: Chr11:51654514-51682752 bp, + strand  Genetic Position: Chr11, 31.41 cM
Alliance: Sar1bem1Emle page
Mutation
origin
Strain of Origin:  C57BL/6N
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology generated a 545 bp deletion removing exon 2 (GRCm38/mm10, Chr11:51,777,181-51,777,725 del). (J:319817)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
C57BL/6N-Sar1bem1Emle
 
involves: 129 * C57BL/6N
 
ht3  Disease Model
Sar1bem1Emle/Sar1b+
C57BL/6N-Sar1bem1Emle
 
Phenotypes:
Affected Systems
show or hide all annotated terms
     
digestive/alimentary system
abnormal intestinal lipid absorption
homeostasis/metabolism
abnormal intestinal lipid absorption
abnormal circulating non-HDL cholesterol level
decreased circulating cholesterol level
decreased circulating HDL cholesterol level
decreased circulating triglyceride level
abnormal lipid metabolism
decreased lipogenesis
mortality/aging
lethality throughout fetal growth and development, complete penetrance
lethality throughout fetal growth and development, incomplete penetrance
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
ht3
IDs
Expression
In Structures Affected by this Mutation: 1 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 Sar1b Mutation:  21 strains or lines available
References
Original:  J:319817 Auclair N, et al., Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease. J Lipid Res. 2021 May 5;62:100085
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
12/17/2024
MGI 6.24
The Jackson Laboratory