IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
C57BL/6NTac-Ptch1tm1a(EUCOMM)Hmgu/IcsOrl
| Status | Available to order |
| EMMA ID | EM:10546 |
| International strain name | C57BL/6NTac-Ptch1tm1a(EUCOMM)Hmgu/IcsOrl |
| Alternative name | HEPD0529_8_H03 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Ptch1tm1a(EUCOMM)Hmgu |
| Gene/Transgene symbol | Ptch1 |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
| Provider | ICS, Institut Clinique de la Souris |
| Provider affiliation | ICS, Institut Clinique de la Souris |
| Genetic information | This mouse line originates from EUCOMM ES clone HEPD0529_8_H03. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6N Tac |
Disease and phenotype information
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 (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