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Gramd1bem1Pton
Endonuclease-mediated Allele Detail
Summary
Symbol: Gramd1bem1Pton
Name: GRAM domain containing 1B; endonuclease-mediated mutation 1, Peter Tontonoz
MGI ID: MGI:6356548
Synonyms: Aster-B knockout, Gramd1b-
Gene: Gramd1b  Location: Chr9:40204529-40442679 bp, - strand  Genetic Position: Chr9, 21.42 cM, cytoband B
Alliance: Gramd1bem1Pton page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Not Specified
 
Mutation detailsCRISPR/Cas9 mutagenesis induced a missense mutation in exon 7 that resulted in the introduction of a premature stop codon. Immunoblot analysis confirmed the absence of protein expression in adrenal lysates of homozygous mutant mice. (J:266462)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 4 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 Gramd1b Mutation:  120 strains or lines available
References
Original:  J:266462 Sandhu J, et al., Aster Proteins Facilitate Nonvesicular Plasma Membrane to ER Cholesterol Transport in Mammalian Cells. Cell. 2018 Oct 4;175(2):514-529.e20
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
11/12/2024
MGI 6.24
The Jackson Laboratory