IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
CD1.129-Ptch1tm1Zim/Cnrm
| Status | Available to order |
| EMMA ID | EM:00160 |
| Citation information | RRID:IMSR_EM:00160 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 | CD1.129-Ptch1tm1Zim/Cnrm |
| Alternative name | Ptc-CD1 KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Ptch1tm1Zim |
| Gene/Transgene symbol | Ptch1 |
Information from provider
| Provider | Heidi Hahn |
| Provider affiliation | University of Goettingen, Institute of Human Genetics |
| Genetic information | To inactivate Ptch1, exons 6 and 7 of the murine Ptch1 gene were replaced with a neomycin resistance cassette. The targeting construct backbone was a modified pPNT vector. |
| Phenotypic information | Up to 20% of heterozygous mice on the CD1 background develop rhabdomyosarcoma. Model system for Nevoid basal cell carcinoma syndrome; model for rhabdomyosarcoma on CD1 background. |
| Breeding history | Backcrossed to CD1, N=12 |
| References |
|
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Gorlin syndrome / Orphanet_377
- Alobar holoprosencephaly / Orphanet_93925
- Midline interhemispheric variant of holoprosencephaly / Orphanet_93926
- Microform holoprosencephaly / Orphanet_280200
- Septopreoptic holoprosencephaly / Orphanet_280195
- Semilobar holoprosencephaly / Orphanet_220386
- Lobar holoprosencephaly / Orphanet_93924
MGI phenotypes (allele matching)
- abnormal head morphology / MGI
- domed cranium / MGI
- kinked tail / MGI
- omphalocele / MGI
- increased fetal size / MGI
- increased mortality induced by ionizing radiation / MGI
- increased incidence of tumors by ionizing radiation induction / MGI
- increased medulloblastoma incidence / MGI
- abnormal rib morphology / MGI
- polydactyly / MGI
- exencephaly / MGI
- incomplete rostral neuropore closure / MGI
- dermal cysts / MGI
- increased body size / MGI
- increased rhabdomyosarcoma incidence / MGI
- decreased rib number / MGI
- preaxial polydactyly / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- mandibular cysts / MGI
- abnormal neural tube closure / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
MGI phenotypes (gene matching)
- abnormal neurocranium morphology / MGI
- abnormal interparietal bone morphology / MGI
- abnormal basisphenoid bone morphology / MGI
- abnormal frontal bone morphology / MGI
- abnormal parietal bone morphology / MGI
- abnormal rib morphology / MGI
- abnormal sternum morphology / MGI
- abnormal xiphoid process morphology / MGI
- kyphosis / MGI
- abnormal vascular development / MGI
- abnormal heart development / MGI
- belly spot / MGI
- focal hair loss / MGI
- abnormal craniofacial morphology / MGI
- abnormal head morphology / MGI
- shortened head / MGI
- abnormal cranium morphology / MGI
- domed cranium / MGI
- polydactyly / MGI
- syndactyly / MGI
- abnormal foot pad morphology / MGI
- kinked tail / MGI
- thick tail / MGI
- short tail / MGI
- abnormal cerebellar molecular layer / MGI
- exencephaly / MGI
- incomplete rostral neuropore closure / MGI
- open neural tube / MGI
- abnormal telencephalon development / MGI
- abnormal cranial ganglia morphology / MGI
- abnormal geniculate ganglion morphology / MGI
- abnormal trigeminal ganglion morphology / MGI
- abnormal glossopharyngeal ganglion morphology / MGI
- abnormal spermatogenesis / MGI
- small seminal vesicle / MGI
- dermal cysts / MGI
- increased body size / MGI
- ocular hypertelorism / MGI
- increased embryo size / MGI
- embryonic growth arrest / MGI
- infertility / MGI
- male infertility / MGI
- female infertility / MGI
- neoplasm / MGI
- increased tumor incidence / MGI
- increased rhabdomyosarcoma incidence / MGI
- prenatal lethality / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- cryptorchism / MGI
- abnormal enamel morphology / MGI
- small male preputial glands / MGI
- no phenotypic analysis / MGI
- omphalocele / MGI
- decreased rib number / MGI
- decreased fear-related response / MGI
- abnormal nervous system morphology / MGI
- increased hemangiosarcoma incidence / MGI
- abnormal vestibulocochlear ganglion morphology / MGI
- abnormal neural tube closure / MGI
- abnormal lambdoid suture morphology / MGI
- increased mortality induced by ionizing radiation / MGI
- increased fetal size / MGI
- small otic vesicle / MGI
- scapular bone foramen / MGI
- absent presphenoid bone / MGI
- alisphenoid bone hypoplasia / MGI
- small basisphenoid bone / MGI
- increased incidence of tumors by ionizing radiation induction / MGI
- abnormal thoracic cavity morphology / MGI
- dermal hyperplasia / MGI
- abnormal tendon morphology / MGI
- abnormal skeleton morphology / MGI
- abnormal neural plate morphology / MGI
- increased medulloblastoma incidence / MGI
- abnormal nasal placode morphology / MGI
- absent optic vesicle / MGI
- small second pharyngeal arch / MGI
- asymmetric sternocostal joints / MGI
- abnormal intramembranous bone ossification / MGI
- craniorachischisis / MGI
- abnormal sternum manubrium morphology / MGI
- preaxial polydactyly / MGI
- absent palatal shelf / MGI
- palatal shelf hypoplasia / MGI
- cleft secondary palate / MGI
- abnormal neuron differentiation / MGI
- abnormal basicranium morphology / MGI
- increased gastrointestinal tumor incidence / MGI
- increased skin tumor incidence / MGI
- absent third pharyngeal arch / MGI
- absent fourth pharyngeal arch / MGI
- abnormal mandibular prominence morphology / MGI
- abnormal maxillary prominence morphology / MGI
- postnatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- absent forebrain / MGI
- increased lymphoma incidence / MGI
- abnormal upper incisor morphology / MGI
- mandibular cysts / MGI
- short mandibular coronoid process / MGI
- mandibular coronoid process hypoplasia / MGI
Literature references
- Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.;Hahn H, Wojnowski L, Zimmer A M, Hall J, Miller G, Zimmer A, ;1998;Nature medicine;4;619-22; 9585239
- High incidence of medulloblastoma following X-ray-irradiation of newborn Ptc1 heterozygous mice.;Pazzaglia Simonetta, Mancuso Mariateresa, Atkinson Michael J, Tanori Mirella, Rebessi Simonetta, Majo Vincenzo Di, Covelli Vincenzo, Hahn Heidi, Saran Anna, ;2002;Oncogene;21;7580-4; 12386820