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Allele : Hnf1b<tm2Ics> HNF1 homeobox B; targeted mutation 2, Mouse Clinical Institute

Primary Identifier  MGI:6716050 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Hnf1b
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Hnf1b<sp2>,
  • Hnf1b<sp2>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories