- 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
CD1.129-Ptch1tm1Zim/Cnrm
Status | Available to order |
EMMA ID | EM:00160 |
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 |
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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)
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
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