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Ghm1Btlr
Chemically induced Allele Detail
Summary
Symbol: Ghm1Btlr
Name: growth hormone; mutation 1, Bruce Beutler
MGI ID: MGI:6303931
Synonyms: atto
Gene: Gh  Location: Chr11:106191097-106192691 bp, - strand  Genetic Position: Chr11, 68.89 cM, cytoband D
Alliance: Ghm1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced A to T transversion at base pair 106,301,404 (v38) on chromosome 11, or base pair 2,300 in the GenBank genomic region NC_000077.6. The mutation corresponds to residue 310 (c.310A>T) in the mRNA sequence NM_008117.3 within exon 2 of 5 total exons. The mutation results in substitution of lysine 55 for a premature stop codon (p.K55*) in the GH protein. (J:274650)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Gh Mutation:  16 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4178
References
Original:  J:274650 Zhang Z, et al., Mutagenetix entry for atto. MGI Direct Data Submission. 2019;
All:  1 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
04/23/2024
MGI 6.23
The Jackson Laboratory