IMPC phenotypes (gene matching)
B6.129X1-Thtm2Te/Kieg
| Status | Available to order |
| EMMA ID | EM:00596 |
| Citation information | RRID:IMSR_EM:00596 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 name | B6.129X1-Thtm2Te/Kieg |
| Alternative name | B2+ (Th-IRES-BMPR2trunc-neomycin+ |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Thtm2Te |
| Gene/Transgene symbol | Th |
Information from provider
| Provider | Ted Ebendal |
| Provider affiliation | Department of Neuroscience, Uppsala University |
| Genetic information | A truncated, dominant negative bone morphogenic protein (BPM) type II receptor was created by genotyping cloning and cloned downstream of an IRES sequence (obtained from Austin Smith). An frt-flanked neomycin selection cassette was added and the entire construct cloned in the 3' untranslated end of the tyrosine hydroxylase (Th) gene (as described by Althini et al., 2003, J Neurosci Res 72: 444-453). The Th coding sequence is not affected in this mouse line but the presence of the neomycin cassette is affecting the expression level of TH. |
| Phenotypic information | Homozygotes show a marked reduction in body size a few weeks after birth and are hypokinetic. The level of dopamine in the striatum is reduced to about 3% of the normal levels. This mouse is a severe TH hypomorph and as such of interest. We have not used the homozygotes for breeding considering their small size and sluggish movements. The homozygotes also show ptosis and can develop some eye infections. Heterozygotes are phenotypically similar to wild-type littermates. |
| Breeding history | Generated by blastocyst injection of 129/SvJ ES cells into C57BL/6J blastocysts. The frt-flanked neo-cassette has not been eliminated by crossing with FLP-deleter mice in the B2+ mice. This has however been done in the derivative B2- that shows partially restored TH and dopamine levels. Maintained since year 1999 by backcrossing to our colony of C57BL/6J originating from Bomholtgard (Denmark). Currently we maintain neo-plus N9 mice. |
| References |
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Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
MGI phenotypes (gene matching)
- vasculature congestion / MGI
- abnormal heart development / MGI
- ventricular hypoplasia / MGI
- weakness / MGI
- atelectasis / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal cued conditioning behavior / MGI
- abnormal motor coordination/balance / MGI
- respiratory failure / MGI
- abnormal associative learning / MGI
- abnormal learning/memory/conditioning / MGI
- no abnormal phenotype detected / MGI
- anoxia / MGI
- abnormal active avoidance behavior / MGI
- abnormal conditioned taste aversion behavior / MGI
- no phenotypic analysis / MGI
- abnormal heart atrium morphology / MGI
- dilated heart atrium / MGI
- abnormal ST segment / MGI
- abnormal adrenaline level / MGI
- abnormal noradrenaline level / MGI
- bradykinesia / MGI
- decreased heart rate / MGI
- decreased dopamine level / MGI
- abnormal fetal cardiomyocyte morphology / MGI
- visceral vascular congestion / MGI
- liver vascular congestion / MGI
- heart vascular congestion / MGI
- increased serotonin level / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- decreased noradrenaline level / MGI
Literature references
- Normal nigrostriatal innervation but dopamine dysfunction in mice carrying hypomorphic tyrosine hydroxylase alleles.;Althini Susanna, Bengtsson Henrik, Usoskin Dmitry, Söderström Stine, Kylberg Annika, Lindqvist Eva, Chuva de Sousa Lopes Susana, Olson Lars, Lindeberg Jonas, Ebendal Ted, ;2003;Journal of neuroscience research;72;444-53; 12704806