Gh^Sma1
Chemically induced Allele Detail

Summary

• Symbol: Gh^Sma1
• Name: growth hormone; Sma1
• MGI ID: MGI:3042267
• Synonyms: Sma1
• Gene: Gh Location: Chr11:106191097-106192691 bp, - strand Genetic Position: Chr11, 68.89 cM, cytoband D
• Alliance: Gh^Sma1 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• 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)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

7 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

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)