Rr468^tm2.1Df
Targeted Allele Detail

Summary

• Symbol: Rr468^tm2.1Df
• Name: regulatory region 468; targeted mutation 2.1, Douglas Forrest
• MGI ID: MGI:7579305
• Synonyms: Thrb^e
• Gene: Rr468 Location: unknown Genetic Position: Chr14, Syntenic
• Alliance: Rr468^tm2.1Df page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:335506
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Modified regulatory region)
• Mutation: Nucleotide substitutions
• Mutation details: Nucleotides were changed (CACCTG to GAATTC and ACTGTACACAGGTGTTCA to CAGTGCTAGCTTGCAGAC) in the ebox1 and ebox2 sequences of this intronic enhancer downstream of Thrb B2 isoform (ENSMUST00000022304)-specific alternative exon 1 in intron 4 (B2 intron 1). Initially, for selection purposes, a self-excising ACN cassette (loxP site + testis-specific ACE promoter driven cre gene + neomycin resistance gene cassette + loxP site) was inserted into intron 4. Subsequently, this cassette was self-deleted during breeding of chimeras, leaving only a single loxP site remaining at the boundary upstream of the enhancer (J:335506)

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 Rr468 Mutation: 0 strains or lines available

References

• Original: J:335506 Liu H, et al., Noncoding Mutations in a Thyroid Hormone Receptor Gene That Impair Cone Photoreceptor Function. Endocrinology. 2023 Jan 9;164(3)
• All: 1 reference(s)