Tshr^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tshr^m1Btlr
• Name: thyroid stimulating hormone receptor; mutation 1, Bruce Beutler
• MGI ID: MGI:5640754
• Synonyms: freckle
• Gene: Tshr Location: Chr12:91367767-91507283 bp, + strand Genetic Position: Chr12, 44.51 cM
• Alliance: Tshr^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 C to A transversion at base pair 91,538,226 (v38) on chromosome 12, or base pair 137,234 in the GenBank genomic region NC_000078. The mutation corresponds to residue 2,029 in the mRNA sequence NM_011648 (variant 1) within exon 10 of 10 total exons; the mutation is not predicted to affect variant 2 (NM_001113404). The mutation coverts serine 646 to a stop codon (S646*) in the canonical isoform. (J:221489)
• 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 Tshr Mutation: 7 strains or lines available

References

• Original: J:221489 Reyna C, et al., Mutagenetix entry for freckle. MGI Direct Data Submission. 2015
• All: 1 reference(s)