B6.129P2(D2)-Hnf1btm1Sce/Orl

Status

Available to order

EMMA IDEM:07827
Citation informationRRID:IMSR_EM:07827 

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International strain nameB6.129P2(D2)-Hnf1btm1Sce/Orl
Alternative nameC57BL/6N-Hnf1b1 tm1Sce
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolHnf1btm1Sce
Gene/Transgene symbolHnf1b

Information from provider

ProviderSilvia Cereghini
Provider affiliationDevelopmental Biology, UMR7622 CNRS Universite Pierre Marie Curie - Inserm U969
Genetic informationIn the Hnf1btm1Sce mutant allele the entire exon 1 sequence, encoding the Pou-homeodomain of the Hnf1b transcription factor, was deleted and replaced by homologous recombination with nls-lacZ and LTR-neomycin sequences. The lacZ expression pattern in heterozygous mice reproduces the Hnf1b endogenous expression both during embryogenesis and in adults. Hnf1b is expressed in the primitive endoderm and its derivatives (visceral and parietal endoderm). After gastrulation its expression is restricted to the forming neural tube and the primitive gut, and later to the liver, pancreas and lung buds and to the developing meso- and metanephros.
Phenotypic informationHomozygous:
Hnf1b deficient embryos develop normally up to the blastocyst stage, but die soon after implantation due to an abnormal differentiation of the primitive endoderm into visceral and parietal endoderm (Barbacci et al., 1999; Development, 126, 4795-805).

Heterozygous:
Heterozygous animals develop and reproduce normally. However and in contrast to the mixed or 129/Sv background in the C57BL/6N background a fraction of Hnf1b heterozygous animals exhibit either unilateral of bilateral eye defects that are manifested during development. This phenotype has not yet been characterized but it is likely due to a genetic interaction between Hnf1b and a not yet identified C57BL/6 gene modifier. It is interesting to note that Hnf1b heterozygous animals carrying a splicing mutation, which results in a non functional allele, exhibit similar eye defects in the C57BL/6N background (unpublished data).
Breeding historyThe line was generated by crossing the mutant mice in a mixed background (129/Sv, C57BL/6, DBA) for more than 20 generations with the C57BL/6N strain.
References
  • Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.;Niborski Leticia L, Paces-Fessy Mélanie, Ricci Pierbruno, Bourgeois Adeline, Magalhães Pedro, Kuzma-Kuzniarska Maria, Lesaulnier Celine, Reczko Martin, Declercq Edwige, Zürbig Petra, Doucet Alain, Umbhauer Muriel, Cereghini Silvia, ;2021;Disease models & mechanisms;14;; 33737325
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France
Animals used for archivingheterozygous C57BL/6N males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • abnormal ectoderm development / MGI
  • decreased embryo size / MGI
  • embryonic growth arrest / MGI
  • abnormal developmental patterning / MGI
  • abnormal embryonic tissue morphology / MGI
  • abnormal extraembryonic tissue morphology / MGI
  • abnormal inner cell mass morphology / MGI
  • abnormal embryonic epiblast morphology / MGI
  • embryonic growth retardation / MGI
  • embryonic lethality between implantation and somite formation, complete penetrance / MGI
  • abnormal primitive endoderm morphology / MGI
  • absent proamniotic cavity / MGI
  • absent ectoplacental cavity / MGI
  • absent visceral endoderm / MGI
  • absent parietal endoderm / MGI
MGI phenotypes (gene matching)
  • abnormal ectoderm development / MGI
  • failure to gastrulate / MGI
  • decreased embryo size / MGI
  • abnormal extraembryonic endoderm formation / MGI
  • embryonic growth arrest / MGI
  • abnormal developmental patterning / MGI
  • abnormal embryonic tissue morphology / MGI
  • abnormal extraembryonic tissue morphology / MGI
  • disorganized extraembryonic tissue / MGI
  • absent blastocoele / MGI
  • abnormal inner cell mass morphology / MGI
  • abnormal embryonic epiblast morphology / MGI
  • embryonic growth retardation / MGI
  • disorganized embryonic tissue / MGI
  • embryonic lethality between implantation and somite formation, complete penetrance / MGI
  • abnormal primitive endoderm morphology / MGI
  • abnormal visceral endoderm morphology / MGI
  • absent proamniotic cavity / MGI
  • absent ectoplacental cavity / MGI
  • absent visceral endoderm / MGI
  • absent parietal endoderm / MGI

Literature references

  • Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.;Niborski Leticia L, Paces-Fessy Mélanie, Ricci Pierbruno, Bourgeois Adeline, Magalhães Pedro, Kuzma-Kuzniarska Maria, Lesaulnier Celine, Reczko Martin, Declercq Edwige, Zürbig Petra, Doucet Alain, Umbhauer Muriel, Cereghini Silvia, ;2021;Disease models & mechanisms;14;; 33737325

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

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Practical information

Genotyping protocol

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