Hnf1b^tm2Ics

---

Species

Mus musculus

Symbol

Hnf1b^tm2Ics

Category

allele

Allele of gene

Hnf1b

Transgenic Constructs

None

Synonyms

• Hnf1b^sp2

Description

A G-to-T splice donor site mutation was introduced in the first nucleotide of intron 2 (c.544+1G>T) to mimic the mutation found in some MODY5 (maturity-onset diabetes of the young) patients. RT-PCR experiments confirmed the skipping of exon 2 and also identified transcripts missing the last 32 bp of exon 2 owing to the use of a cryptic splice donor site.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations