C3HeB/FeJ-Jag1Ndr/Ieg

Status

Available to order

EMMA IDEM:13207
International strain nameC3HeB/FeJ-Jag1Ndr/Ieg
Alternative nameNodder
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolJag1Ndr
Gene/Transgene symbolJag1

Information from provider

ProviderSimona Hankeova
Provider affiliationKarolinska Institutet
Additional ownerHelmholtz Zentrum München, Munich, Germany
Genetic informationNodder mice were identified through an ENU screen. C3HeB/FeJ mice were purchased from the Jackson Laboratory, Bar Harbor, ME. Mutagenesis was achieved by treating male mice three times with 100 mg N-ethyl-N-nitrosurea (ENU) per kg in a weekly interval and crossing them to wild-type C3HeB/FeJ females. The F3 progeny of the ENU-treated mice was analysed for neurological and behavioural abnormalities in a series of tests according to a modified SHIRPA (SmithKline Beecham, Harwell, Imperial College School of Medicine, Royal London Hospital, Phenotype, Assessment) protocol. Nodder mice were identified by nodding behavior and balance defects in motor-coordination assays. Breeding and phenotyping of the Nodder mice progeny revealed a dominant autosomal inheritance. Mapping by backcrossing showed that the mice with mutant Jagged1 protein, referred to as Nodder because of a nodding behaviour and balance defects in the heterozygous (Jagged1+/Ndr) state carried a Jag1 allele that encoded a histidine-to-glutamine replacement at position 268 (JagH268Q).
Phenotypic informationHomozygous:
The homozygous mice are lethal by E12 - E12.5 due to vascular defects. When the mice are outbred to 50% C3H and 50% C57BL/6 background then 15% of homozygous mice are born and 5% survive till adulthood.

Heterozygous:
The heterozygous mice have a head nodding phenotype.
Breeding historyThe Nodder mice are kept on C3H/HeN background. The homozygous Nodder mice are lethal at E12 - E12.5. The heterozygous Nodder mice are fertile.
References
  • Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.;Andersson Emma R, Chivukula Indira V, Hankeova Simona, Sjöqvist Marika, Tsoi Yat Long, Ramsköld Daniel, Masek Jan, Elmansuri Aiman, Hoogendoorn Anita, Vazquez Elenae, Storvall Helena, Netušilová Julie, Huch Meritxell, Fischler Björn, Ellis Ewa, Contreras Adriana, Nemeth Antal, Chien Kenneth C, Clevers Hans, Sandberg Rickard, Bryja Vitezslav, Lendahl Urban, ;2018;Gastroenterology;154;1080-1095; 29162437
  • Control of Notch-ligand endocytosis by ligand-receptor interaction.;Hansson Emil M, Lanner Fredrik, Das Debashish, Mutvei Anders, Marklund Ulrika, Ericson Johan, Farnebo Filip, Stumm Gabriele, Stenmark Harald, Andersson Emma R, Lendahl Urban, ;2010;Journal of cell science;123;2931-42; 20720151
Homozygous fertilenot known
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreKarolinska Institutet, Stockholm, Sweden

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (gene matching)
  • abnormal organ of Corti morphology / MGI
  • abnormal vascular development / MGI
  • enlarged pericardium / MGI
  • distended pericardium / MGI
  • corneal opacity / MGI
  • irregularly shaped pupil / MGI
  • head bobbing / MGI
  • impaired balance / MGI
  • abnormal blood vessel morphology / MGI
  • pale yolk sac / MGI
  • hemorrhage / MGI
  • intracranial hemorrhage / MGI
  • abnormal eye morphology / MGI
  • abnormal neural tube morphology / MGI
  • no abnormal phenotype detected / MGI
  • abnormal semicircular canal morphology / MGI
  • abnormal cochlear hair cell morphology / MGI
  • head shaking / MGI
  • abnormal posterior semicircular canal morphology / MGI
  • no phenotypic analysis / MGI
  • abnormal superior semicircular canal morphology / MGI
  • abnormal vitelline vasculature morphology / MGI
  • abnormal cochlear sensory epithelium morphology / MGI
  • kinked neural tube / MGI
  • embryonic growth retardation / MGI
  • abnormal vitelline vascular remodeling / MGI
  • abnormal crista ampullaris morphology / MGI
  • increased cochlear inner hair cell number / MGI
  • decreased cochlear outer hair cell number / MGI
  • decreased neuronal precursor cell number / MGI
  • head tossing / MGI
  • positive geotaxis / MGI
  • hearing/vestibular/ear phenotype / MGI
  • embryonic lethality during organogenesis / MGI
  • abnormal placement of pupils / MGI
  • abnormal semicircular canal ampulla morphology / MGI
  • increased neuron number / MGI
  • abnormal neuron differentiation / MGI
  • iris coloboma / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • embryo tissue necrosis / MGI

Literature references

  • Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.;Andersson Emma R, Chivukula Indira V, Hankeova Simona, Sjöqvist Marika, Tsoi Yat Long, Ramsköld Daniel, Masek Jan, Elmansuri Aiman, Hoogendoorn Anita, Vazquez Elenae, Storvall Helena, Netušilová Julie, Huch Meritxell, Fischler Björn, Ellis Ewa, Contreras Adriana, Nemeth Antal, Chien Kenneth C, Clevers Hans, Sandberg Rickard, Bryja Vitezslav, Lendahl Urban, ;2018;Gastroenterology;154;1080-1095; 29162437
  • Control of Notch-ligand endocytosis by ligand-receptor interaction.;Hansson Emil M, Lanner Fredrik, Das Debashish, Mutvei Anders, Marklund Ulrika, Ericson Johan, Farnebo Filip, Stumm Gabriele, Stenmark Harald, Andersson Emma R, Lendahl Urban, ;2010;Journal of cell science;123;2931-42; 20720151

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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*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

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Practical information

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