C3HeB/FeJ-Jak1M1Mhda/Ieg

Status

Available to order

EMMA IDEM:02441
International strain nameC3HeB/FeJ-Jak1M1Mhda/Ieg
Alternative nameBAP004
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolJak1M1Mhda,
Gene/Transgene symbolJak1

Information from provider

ProviderMartin Hrabe de Angelis
Provider affiliationInstitute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic informationMissense mutation: nucleotide substitution from A to G at position 1933, resulting in amino acid change from Ser 645 to Pro.
Phenotypic informationCalcium high.
Breeding historyMore than 2 times backcrossed to C3HeB/FeJ.
References
  • Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
  • Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
  • An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.;Sabrautzki Sibylle, Janas Eva, Lorenz-Depiereux Bettina, Calzada-Wack Julia, Aguilar-Pimentel Juan A, Rathkolb Birgit, Adler Thure, Cohrs Christian, Hans Wolfgang, Diener Susanne, Fuchs Helmut, Gailus-Durner Valerie, Busch Dirk H, Höfler Heinz, Ollert Markus, Strom Tim M, Wolf Eckhard, Neff Frauke, Hrabě de Angelis Martin, ;2013;The American journal of pathology;183;352-68; 23791841
Homozygous fertilenot known
Homozygous viablenot known
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreHelmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archivingheterozygous C3H

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

    • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency / Orphanet_574957
MGI phenotypes (allele matching)
  • decreased bone mineral density / MGI
  • hypoglycemia / MGI
  • increased circulating calcium level / MGI
  • decreased circulating phosphate level / MGI
  • alopecia / MGI
  • abnormal liver morphology / MGI
  • enlarged liver sinusoidal spaces / MGI
  • abnormal hepatocyte morphology / MGI
  • enlarged spleen / MGI
  • skin lesions / MGI
  • abnormal dermal layer morphology / MGI
  • decreased body weight / MGI
  • ear inflammation / MGI
  • abnormal tail morphology / MGI
  • abnormal outer ear morphology / MGI
  • abnormal plasma cell morphology / MGI
  • increased immunoglobulin level / MGI
  • increased IgM level / MGI
  • increased IgA level / MGI
  • decreased mean corpuscular volume / MGI
  • anisocytosis / MGI
  • microcytic anemia / MGI
  • decreased circulating parathyroid hormone level / MGI
  • increased erythrocyte cell number / MGI
  • thrombocytopenia / MGI
  • abnormal compact bone morphology / MGI
  • increased anti-nuclear antigen antibody level / MGI
  • abnormal bone resorption / MGI
  • skin inflammation / MGI
  • liver hyperplasia / MGI
  • decreased circulating cholesterol level / MGI
  • decreased triglyceride level / MGI
  • abnormal circulating creatinine level / MGI
  • decreased circulating serum albumin level / MGI
  • increased liver regeneration / MGI
  • decreased circulating total protein level / MGI
  • increased plasma cell number / MGI
  • decreased megakaryocyte cell number / MGI
  • increased IgG1 level / MGI
  • increased IgG2a level / MGI
  • increased blood uric acid level / MGI
  • decreased mean platelet volume / MGI
  • decreased cellular hemoglobin content / MGI
  • decreased birth body size / MGI
  • abnormal liver vasculature morphology / MGI
  • abnormal bone trabecula morphology / MGI
  • decreased bone trabecula number / MGI
  • decreased compact bone volume / MGI
  • abnormal glomerular mesangium morphology / MGI
  • decreased urine urea nitrogen level / MGI
  • increased alkaline phosphatase activity / MGI

Literature references

  • Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
  • Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
  • An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.;Sabrautzki Sibylle, Janas Eva, Lorenz-Depiereux Bettina, Calzada-Wack Julia, Aguilar-Pimentel Juan A, Rathkolb Birgit, Adler Thure, Cohrs Christian, Hans Wolfgang, Diener Susanne, Fuchs Helmut, Gailus-Durner Valerie, Busch Dirk H, Höfler Heinz, Ollert Markus, Strom Tim M, Wolf Eckhard, Neff Frauke, Hrabě de Angelis Martin, ;2013;The American journal of pathology;183;352-68; 23791841

Order

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.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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