- increased mammary adenocarcinoma incidence / MGI
- impaired natural killer cell mediated cytotoxicity / MGI
- increased circulating interferon-gamma level / MGI
- increased circulating interleukin-12b level / MGI
- abnormal NK cell physiology / MGI
- decreased level of surface class I molecules / MGI
- increased susceptibility to bacterial infection / MGI
- increased susceptibility to viral infection / MGI
- abnormal MHC II cell surface expression on macrophages / MGI
- vision/eye phenotype / MGI
- decreased susceptibility to endotoxin shock / MGI
- abnormal intestine morphology / MGI
- decreased body size / MGI
- multifocal hepatic necrosis / MGI
- abnormal leukocyte physiology / MGI
- lethality at weaning, complete penetrance / MGI
B6N.Cg-Stat1tm1Dlv Gt(ROSA)26Sortm1(rtTA*M2)Jae Col1a1tm1(tetO-Stat1)Biat/Biat
Status | Available to order |
EMMA ID | EM:09938 |
International strain name | B6N.Cg-Stat1tm1Dlv Gt(ROSA)26Sortm1(rtTA*M2)Jae Col1a1tm1(tetO-Stat1)Biat/Biat |
Alternative name | C57BL/6N-Stat1 |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Col1a1tm1(tetO-Stat1)Biat, |
Gene/Transgene symbol | Col1a1 |
Information from provider
Provider | Mathias Müller |
Provider affiliation | Department for Biomedical Sciences, University of Veterinary Medicine Vienna (Vetmeduni Vienna) |
Additional owner | Prof. Thomas Rülicke, University of Veterinary Medicine, Institute of Laboratory Animal Science, Vienna, Austria |
Genetic information | Stat1tm1Dlv: A neomycin resistance cassette replaced 5.7 kb of sequence, including 3 exons and a portion of a fourth encoding amino acids 221-365. This allele produces a partial nonfunctional protein product. (J:31325) Gt(ROSA)26Sortm1(rtTA*M2)Jae: An optimized form of reverse tetracycline controlled transactivator (rtTA-M2) was inserted downstream of the Gt(ROSA)26Sor promoter and was followed by a PGK-puro selection cassette. This mutant form of rtTA termed M2 has five amino acid substitutions in the tetR moiety of tTA: S12G, E19G, A56P, D148E and H179R. This mutated form of transactivatory protein has increased doxycycline sensitivity. Mice have widespread expression of the rtTA-M2 protein. (J:98920) Col1a1tm1(tetO-Stat1)Biat: RMCE on KH2 ES cells introduced into the 3' UTR a tetracycline responsive element driving inducible expression of the FLAG-tagged mouse cDNA. (J:212694) |
Phenotypic information | Homozygous:n/aHeterozygous:immunological phenotype - see paper |
Breeding history | The mice were backcrossed to the C57BL/6N background by speed congenics (Teppner et al. 2004; Lab Anim. 38:406–412. 10.1258/0023677041958882). |
References |
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Homozygous fertile | not known |
Homozygous viable | not known |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | University of Veterinary Medicine, Vienna, Austria |
Animals used for archiving | homozygous C57BL/6N |
Breeding at archiving centre | Breeding of animals for homozygous embryo production |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Ehlers-Danlos/osteogenesis imperfecta syndrome / Orphanet_230857
- Osteogenesis imperfecta type 3 / Orphanet_216812
- Arthrochalasia Ehlers-Danlos syndrome / Orphanet_1899
- Classical Ehlers-Danlos syndrome / Orphanet_287
- Osteogenesis imperfecta type 2 / Orphanet_216804
- Osteogenesis imperfecta type 4 / Orphanet_216820
- Caffey disease / Orphanet_1310
- High bone mass osteogenesis imperfecta / Orphanet_314029
- Osteogenesis imperfecta type 1 / Orphanet_216796
- Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome / Orphanet_391487
- Susceptibility to viral and mycobacterial infections due to STAT1 deficiency / Orphanet_391311
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency / Orphanet_319595
MGI phenotypes (allele matching)
Literature references
- Inducible, dose-adjustable and time-restricted reconstitution of STAT1 deficiency in vivo.;Leitner Nicole R, Lassnig Caroline, Rom Rita, Heider Susanne, Bago-Horvath Zsuzsanna, Eferl Robert, Müller Simone, Kolbe Thomas, Kenner Lukas, Rülicke Thomas, Strobl Birgit, Müller Mathias, ;2014;PloS one;9;e86608; 24489749
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