Ghr^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ghr^m1Btlr
• Name: growth hormone receptor; mutation 1, Bruce Beutler
• MGI ID: MGI:5640787
• Synonyms: gnome
• Gene: Ghr Location: Chr15:3347237-3612834 bp, - strand Genetic Position: Chr15, 1.84 cM
• Alliance: Ghr^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is a T to C transition at base pair 3,388,646 on chromosome 15, corresponding to base pair 194,707 in the GenBank genomic region NC_000081. The mutation is located in the donor splice site of intron 3, two nucleotides from the previous exon in the NM_010284, NM_001048178, and NM_001286370 transcripts; the NM_010284 transcript contains 11 total exons, the NM_001048178 and NM_001286370 transcripts contain 9 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in the skipping of the 66 base pair exon 3 and splicing from exon 2 to exon 4. The aberrant splicing would lead to an in-frame deletion of 22 amino acids and coding of one aberrant amino acid (Ser46Gly). (J:221475)
• Inheritance: Recessive

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 Ghr Mutation: 50 strains or lines available

References

• Original: J:221475 SoRelle J, et al., Mutagenetix entry for gnome. MGI Direct Data Submission. 2015
• All: 1 reference(s)