C57BL/6N-Atm1Brd Jak1tm1a(EUCOMM)Hmgu/Biat

Status

Available to order

EMMA IDEM:06879
Citation informationRRID:IMSR_EM:06879 

Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.

 
International strain nameC57BL/6N-Atm1Brd Jak1tm1a(EUCOMM)Hmgu/Biat
Alternative nameC57BL/6N-A-Jak1tm1a(EUCOMM)Hmgu
Strain typeTargeted Mutant Strains
Allele/Transgene symbolJak1tm1a(EUCOMM)Hmgu
Gene/Transgene symbolJak1

Information from provider

ProviderAlexander Dohnal
Provider affiliationTumor Immunology, St. Anna Kinderkrebsforschung
Genetic informationThe L1L2_Bact_P cassette was inserted at position 101192170 of chromosome 4 upstream of the critical exon(s) (Build GRCm38). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon(s) at position 101191044. The critical exon(s) is/are thus flanked by loxP sites. A "conditional ready" (floxed) allele can be created by flp recombinase expression in mice carrying this allele. Subsequent cre recombinase expression results in a knock-out mouse. If cre expression occurs without flp expression, a reporter knock-out mouse will be created. Further information on targeting strategies used for this and other EUCOMM/KOMP alleles can be found here.
Phenotypic informationnot available
References
  • Loss of JAK1 Drives Innate Immune Deficiency.;Witalisz-Siepracka Agnieszka, Klein Klara, Prinz Daniela, Leidenfrost Nicoletta, Schabbauer Gernot, Dohnal Alexander, Sexl Veronika, ;2018;Frontiers in immunology;9;3108; 30671064
Homozygous fertilenot known
Homozygous viablenot known
Homozygous matings requirednot known
Immunocompromisedno

Information from EMMA

Archiving centreUniversity of Veterinary Medicine, Vienna, Austria

Disease and phenotype information

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 (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

  • Loss of JAK1 Drives Innate Immune Deficiency.;Witalisz-Siepracka Agnieszka, Klein Klara, Prinz Daniela, Leidenfrost Nicoletta, Schabbauer Gernot, Dohnal Alexander, Sexl Veronika, ;2018;Frontiers in immunology;9;3108; 30671064

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 embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • Conditional ready allele (tm1c allele), service fee and delivery time available upon request

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

Example health report
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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.

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Legally binding conditions for the transfer

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