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| Nomenclature |
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Symbol:
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GhSma1
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Name:
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growth hormone;
Sma1
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MGI ID: |
MGI:3042267 |
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Synonyms: |
Sma1 |
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Gene:
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Gh
Location:
Chr11:106300271-106301865 bp, - strand
Genetic Position: Chr11,
68.89 cM, cytoband D
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Mutation
origin |
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Strain of Origin:
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C3HeB/FeJ
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: A 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)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gh Mutation:
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1 strain or line available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
