Hnf1b^tm2Ics
Targeted Allele Detail

Summary

• Symbol: Hnf1b^tm2Ics
• Name: HNF1 homeobox B; targeted mutation 2, Mouse Clinical Institute
• MGI ID: MGI:6716050
• Synonyms: Hnf1b^sp2
• Gene: Hnf1b Location: Chr11:83741035-83796743 bp, + strand Genetic Position: Chr11, 51.23 cM
• Alliance: Hnf1b^tm2Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:306082
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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. (J:306082)

Expression

In Structures Affected by this Mutation:

6 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 Hnf1b Mutation: 16 strains or lines available

References

• Original: J:306082 Quilichini E, et al., Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease. J Pathol. 2021 May;254(1):31-45
• All: 1 reference(s)