Summary | Mutation origin | Mutation description | Expression | Find Mice (IMSR) | References

Symbol:	Hnf1btm2.1Sce
Name:	HNF1 homeobox B; targeted mutation 2.1, Silvia Cereghini
MGI ID:	MGI:6715604
Synonyms:	Hnf1bSp2
Gene:	Hnf1b  Location: Chr11:83741035-83796743 bp, + strand  Genetic Position: Chr11, 51.23 cM
Alliance:	Hnf1btm2.1Sce page

Germline Transmission:	Earliest citation of germline transmission: J:306107
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Hypomorph) Mutation:    Single point mutation   Mutation details: A G to T change was made at the intron 2 splice donor site (GAC/g taagtgttttaacctt to GAC/t taagtgttttaagctt) reproducing the c.544+1G>T human spicing point mutation. In addition, a loxP-flanked neomycin resistance cassette was inserted within intron 1 and excised via cre-mediated recombination. Transcript and protein levels are reduced during development and levels of protein, but not transcript, are reduced in postnatal life in heterozygotes. None of the potential truncated proteins encoded by alternative spliced transcripts are detected. (J:306107)

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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

Original:	J:306107 Niborski LL, et al., Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model. Dis Model Mech. 2021 May 1;14(5):dmm047498
All:	1 reference(s)