C3HeB/FeJ-Jak1^M1Mhda/Ieg

Status	Available to order
EMMA ID	EM:02441
International strain name	C3HeB/FeJ-Jak1^M1Mhda/Ieg
Alternative name	BAP004
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Jak1^M1Mhda
Gene/Transgene symbol	Jak1

Information from provider

Provider	Martin Hrabe de Angelis
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	Missense mutation: nucleotide substitution from A to G at position 1933, resulting in amino acid change from Ser 645 to Pro.
Phenotypic information	Calcium high.
Breeding history	More 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 Systemic Jak1 activation causes extrarenal calcitriol production and skeletal alterations provoking stunted growth.;Fuente Rocío, Gehring Nicole, Bettoni Carla, Gil-Peña Helena, Alonso-Durán Laura, Michalke Bernhard, Santos Fernando, Wagner Carsten A, Rubio-Aliaga Isabel, ;2021;FASEB journal : official publication of the Federation of American Societies for Experimental Biology;35;e21721; 34118090
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C3H

Disease and phenotype information

MGI allele-associated human disease models

systemic lupus erythematosus / DOID:9074

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

MGI phenotypes (gene 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
small thymus / MGI
decreased thymocyte number / MGI
skin lesions / MGI
abnormal dermal layer morphology / MGI
decreased body weight / MGI
decreased body size / MGI
abnormal suckling behavior / MGI
arrested B cell differentiation / MGI
ear inflammation / MGI
apnea / MGI
abnormal tail morphology / MGI
abnormal B cell differentiation / MGI
abnormal T cell differentiation / MGI
no abnormal phenotype detected / MGI
abnormal outer ear morphology / MGI
abnormal lymphopoiesis / 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 circulating alkaline phosphatase level / MGI
increased erythrocyte cell number / MGI
thrombocytopenia / MGI
abnormal compact bone morphology / MGI
decreased fetal size / MGI
increased anti-nuclear antigen antibody level / MGI
abnormal bone resorption / MGI
skin inflammation / MGI
decreased B cell number / MGI
increased double-negative T cell number / 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
neonatal lethality, complete penetrance / 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
Systemic Jak1 activation causes extrarenal calcitriol production and skeletal alterations provoking stunted growth.;Fuente Rocío, Gehring Nicole, Bettoni Carla, Gil-Peña Helena, Alonso-Durán Laura, Michalke Bernhard, Santos Fernando, Wagner Carsten A, Rubio-Aliaga Isabel, ;2021;FASEB journal : official publication of the Federation of American Societies for Experimental Biology;35;e21721; 34118090

Information on how we integrate external resources can be found here

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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C3HeB/FeJ-Jak1M1Mhda/Ieg