IMPC phenotypes (allele matching)
C3(Cg)-Pitx3eyl/Ieg
| Status | Available to order |
| EMMA ID | EM:01641 |
| International strain name | C3(Cg)-Pitx3eyl/Ieg |
| Alternative name | EYL |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Pitx3eyl |
| Gene/Transgene symbol | Pitx3 |
Information from provider
| Provider | Michael Rosemann |
| Provider affiliation | Institute of Pathology, GSF - National Research Center for Environment and Health |
| Genetic information | Guanosine insertion at position 416 (416InsG) in exon 4 causing a frameshift 19 AA distal of the homebox; complete absence of Otp/Aristaless/Rax (OAR) transactivation domain. Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt. |
| Phenotypic information | No induction of eye-lens at placode stage. |
| Breeding history | Arose during a C3H/102 congenic inbreeding. |
| References |
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Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Cataract-glaucoma syndrome / Orphanet_162
- Early-onset posterior polar cataract / Orphanet_98993
IMPC phenotypes (gene matching)
- decreased body weight / IMPC
- increased body temperature / IMPC
- increased coping response / IMPC
- abnormal sleep behavior / IMPC
- hyperactivity / IMPC
- abnormal motor learning / IMPC
- anophthalmia / IMPC
- decreased circulating triglyceride level / IMPC
- decreased circulating glucose level / IMPC
- decreased locomotor activity / IMPC
- increased grip strength / IMPC
- shortened ST segment / IMPC
- decreased vertical activity / IMPC
- abnormal motor coordination/balance / IMPC
- decreased exploration in new environment / IMPC
- increased fasting circulating glucose level / IMPC
- decreased circulating free fatty acids level / IMPC
- increased heart rate / IMPC
MGI phenotypes (allele matching)
- decreased leukocyte cell number / MGI
- increased granulocyte number / MGI
- decreased body length / MGI
- decreased body weight / MGI
- microphthalmia / MGI
- fused cornea and lens / MGI
- abnormal cornea morphology / MGI
- abnormal retina morphology / MGI
- increased anxiety-related response / MGI
- decreased anxiety-related response / MGI
- decreased exploration in new environment / MGI
- increased circulating phosphate level / MGI
- decreased IgM level / MGI
- abnormal breathing pattern / MGI
- abnormal respiratory function / MGI
- abnormal immunoglobulin level / MGI
- hepatic steatosis / MGI
- decreased circulating triglyceride level / MGI
- hyperresponsive to tactile stimuli / MGI
- increased circulating alkaline phosphatase level / MGI
- aphakia / MGI
- thrombocytopenia / MGI
- increased lean body mass / MGI
- decreased thermal nociceptive threshold / MGI
- decreased bone mass / MGI
- decreased circulating iron level / MGI
- increased energy expenditure / MGI
- eyelids fail to open / MGI
- decreased circulating cholesterol level / MGI
- abnormal food intake / MGI
- increased body temperature / MGI
- increased pulmonary respiratory rate / MGI
- decreased tidal volume / MGI
- increased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- decreased IgG3 level / MGI
- decreased chemical nociceptive threshold / MGI
- decreased circulating amylase level / MGI
- increased blood uric acid level / MGI
- decreased blood uric acid level / MGI
- decreased total body fat amount / MGI
- decreased grip strength / MGI
- decreased dopaminergic neuron number / MGI
MGI phenotypes (gene matching)
- decreased leukocyte cell number / MGI
- increased granulocyte number / MGI
- abnormal midbrain morphology / MGI
- decreased body length / MGI
- decreased body weight / MGI
- decreased body size / MGI
- microphthalmia / MGI
- abnormal eye distance/ position / MGI
- fused cornea and lens / MGI
- abnormal cornea morphology / MGI
- abnormal retina morphology / MGI
- increased anxiety-related response / MGI
- decreased anxiety-related response / MGI
- abnormal locomotor behavior / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- decreased exploration in new environment / MGI
- increased circulating phosphate level / MGI
- decreased IgM level / MGI
- reduced fertility / MGI
- abnormal breathing pattern / MGI
- abnormal eye morphology / MGI
- abnormal respiratory function / MGI
- abnormal immunoglobulin level / MGI
- hepatic steatosis / MGI
- decreased circulating triglyceride level / MGI
- hyperresponsive to tactile stimuli / MGI
- decreased vertical activity / MGI
- abnormal ocular fundus morphology / MGI
- increased circulating alkaline phosphatase level / MGI
- no phenotypic analysis / MGI
- aphakia / MGI
- thrombocytopenia / MGI
- increased neuron apoptosis / MGI
- loss of dopaminergic neurons / MGI
- nervous system phenotype / MGI
- increased lean body mass / MGI
- decreased thermal nociceptive threshold / MGI
- decreased bone mass / MGI
- abnormal dorsal striatum morphology / MGI
- decreased circulating iron level / MGI
- increased energy expenditure / MGI
- abnormal iris pigmentation / MGI
- eyelids fail to open / MGI
- decreased circulating cholesterol level / MGI
- abnormal anterior eye segment morphology / MGI
- abnormal posterior eye segment morphology / MGI
- abnormal food intake / MGI
- increased body temperature / MGI
- abnormal lens development / MGI
- increased pulmonary respiratory rate / MGI
- decreased tidal volume / MGI
- decreased dopamine level / MGI
- increased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- decreased IgG3 level / MGI
- decreased chemical nociceptive threshold / MGI
- decreased circulating amylase level / MGI
- increased blood uric acid level / MGI
- decreased blood uric acid level / MGI
- increased neuron number / MGI
- decreased total body fat amount / MGI
- decreased grip strength / MGI
- decreased dopaminergic neuron number / MGI
- acoria / MGI
- abnormal substantia nigra pars compacta morphology / MGI
- enlarged lacrimal gland / MGI
- decreased substantia nigra size / MGI
Literature references
- Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.;Rosemann Michael, Ivashkevich Alesia, Favor Jack, Dalke Claudia, Hölter Sabine M, Becker Lore, Rácz Ildikó, Bolle Ines, Klempt Martina, Rathkolb Birgit, Kalaydjiev Svetoslav, Adler Thure, Aguilar Antonio, Hans Wolfgang, Horsch Marion, Rozman Jan, Calzada-Wack Julia, Kunder Sandra, Naton Beatrix, Gailus-Durner Valerie, Fuchs Helmut, Schulz Holger, Beckers Johannes, Busch Dirk H, Burbach J Peter H, Smidt Marten P, Quintanilla-Martinez Leticia, Esposito Irene, Klopstock Thomas, Klingenspor Martin, Ollert Markus, Wolf Eckhard, Wurst Wolfgang, Zimmer Andreas, de Angelis Martin Hrabé, Atkinson Michael, Heinzmann Ulrich, Graw Jochen, ;2010;Mammalian genome : official journal of the International Mammalian Genome Society;21;13-27; 20033184