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GhSma1
Chemically induced Allele Detail
Nomenclature
Symbol: GhSma1
Name: growth hormone; Sma1
MGI ID: MGI:3042267
Synonyms: Sma1
Gene: Gh  Location: Chr11:106300271-106301865 bp, - strand  Genetic Position: Chr11, 68.89 cM, cytoband D
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA transition point mutation that alters nucleotide 3144 in exon 5 from an A to a G was found following ENU mutagenesis. This translates into an aspartic acid to glycine amino acid change at position 167 in the C-terminal helix of the mature protein. (J:89518)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
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:  9 strains or lines available
References
Original:  J:89518 Meyer CW, et al., A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity. Endocrinology. 2004 May;145(5):2531-41
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory