MGI phenotypes (allele matching)
CD-1 x B6.129S1-Pax1tm2Neu/Ieg
| Status | Available to order |
| EMMA ID | EM:01382 |
| Citation information | RRID:IMSR_EM:01382 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 | CD-1 x B6.129S1-Pax1tm2Neu/Ieg |
| Alternative name | Pax1 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Pax1tm2Neu |
| Gene/Transgene symbol | Pax1 |
Information from provider
| Provider | Kenji Imai |
| Provider affiliation | GSF-National Research Center for Environment and Health |
| Genetic information | Mice lacking a functional Pax1 gene were generated by homologous recombination. A beta galactosidase gene was introduced within the paired box-encoding exon, resulting in a premature termination of the gene product. |
| Phenotypic information | Severe morphological alterations of vertebral column, sternum, scapula and thymus. |
| Breeding history | Backcrossed to C57BL/6 for more than 20 generations - but outcrossed once to CD1, for the purpose of sperm freezing. |
| 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
Orphanet associated rare diseases, based on orthologous gene matching
- Otofaciocervical syndrome / Orphanet_2792
MGI phenotypes (gene matching)
- abnormal vertebrae morphology / MGI
- absent vertebral transverse processes / MGI
- abnormal vertebral body morphology / MGI
- abnormal scapula morphology / MGI
- abnormal rib morphology / MGI
- abnormal sternum morphology / MGI
- kyphosis / MGI
- scoliosis / MGI
- decreased cell proliferation / MGI
- abnormal jaw morphology / MGI
- syndactyly / MGI
- kinked tail / MGI
- short tail / MGI
- decreased thymocyte number / MGI
- abnormal myotome development / MGI
- decreased body size / MGI
- abnormal locomotor behavior / MGI
- abnormal tail morphology / MGI
- abnormal craniofacial bone morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal caudal vertebrae morphology / MGI
- abnormal notochord morphology / MGI
- abnormal thoracic vertebrae morphology / MGI
- abnormal cervical vertebrae morphology / MGI
- abnormal lumbar vertebrae morphology / MGI
- abnormal bone structure / MGI
- polysyndactyly / MGI
- abnormal intervertebral disk morphology / MGI
- absent acromion / MGI
- abnormal scapular spine morphology / MGI
- abnormal deltoid tuberosity morphology / MGI
- abnormal vertebral pedicle morphology / MGI
- abnormal cervical atlas morphology / MGI
- abnormal cervical axis morphology / MGI
- abnormal rib joint morphology / MGI
- vertebral compression / MGI
- small caudal vertebrae / MGI
- abnormal ventral tubercle of atlas morphology / MGI
- vertebral body hypoplasia / MGI
- absent vertebral body / MGI
- small vertebral body / MGI
- absent intervertebral disk / MGI
- split vertebrae / MGI
- abnormal vertebral column morphology / MGI
- decreased double-negative T cell number / MGI
- increased double-negative T cell number / MGI
- decreased double-positive T cell number / MGI
- abnormal vertebrae development / MGI
- abnormal vertebral arch development / MGI
- abnormal intervertebral disk development / MGI
- abnormal humerus morphology / MGI
- abnormal skeleton morphology / MGI
- absent sclerotome / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- abnormal costovertebral joint morphology / MGI
- sternebra fusion / MGI
- fusion of atlas and odontoid process / MGI
- lethality, complete penetrance / MGI
- abnormal tail position or orientation / MGI
- wavy tail / MGI
- small acromion / MGI
Literature references
- Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column development.;Furumoto T A, Miura N, Akasaka T, Mizutani-Koseki Y, Sudo H, Fukuda K, Maekawa M, Yuasa S, Fu Y, Moriya H, Taniguchi M, Imai K, Dahl E, Balling R, Pavlova M, Gossler A, Koseki H, ;1999;Developmental biology;210;15-29; 10364424