Analysis Tools|
Allele Symbol Allele Name Allele ID |
Ptch1tm1Zim targeted mutation 1, Andreas Zimmer MGI:1857935 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• neural folds fail to close
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• neural folds fail to close
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: on CD-1 background, 7% of mutants die and/or are resorbed on E16.5 while on a C57BL/6 background, 22% of mutants die on E16.5
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• Background Sensitivity: 9% of young mutants aged 6-13 weeks exhibit rhabdomyosarcoma on a CD-1 background
• Background Sensitivity: incidence of rhabdomyosarcoma is lower on the C57BL/6 background than on the CD-1 background, with only 1 of 53 showing this phenotype
• tumors generally involve the skeletal muscle of the rear thigh, lumbar region or abdominal wall
• tumors are unencapsulated and neoplastic cells invade the adjacent muscle and fat
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• mice exhibit a mandibular cyst lined by squamous epithelium adjacent to a tooth root
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• 2 of 44 mutants on a CD-1 background at E16.5 exhibit failure of anterior neural tube closure
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• mice exhibit a mandibular cyst lined by squamous epithelium adjacent to a tooth root
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• dermal cyst is lined with keratinizing epithelium and filled with hair shafts
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• generalized overgrowth by 20% at 6-8 weeks of age
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• 12% increase in body size at E16.5
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• 2 of 44 mutants on a CD-1 background at E16.5 exhibit failure of anterior neural tube closure
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• develop medulloblastomas
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• 2 of 44 mutants on a CD-1 background at E16.5 exhibit failure of anterior neural tube closure leading to exencephaly
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• mice exhibit a mandibular cyst lined by squamous epithelium adjacent to a tooth root
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• rib anomalies
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• missing rib
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• Background Sensitivity: 9% of young mutants aged 6-13 weeks exhibit rhabdomyosarcoma on a CD-1 background
• Background Sensitivity: incidence of rhabdomyosarcoma is lower on the C57BL/6 background than on the CD-1 background, with only 1 of 53 showing this phenotype
• tumors generally involve the skeletal muscle of the rear thigh, lumbar region or abdominal wall
• tumors are unencapsulated and neoplastic cells invade the adjacent muscle and fat
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• develop medulloblastomas
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• embryos on the CD-1 background exhibit increased sensitivity to ionizing radiation than wild-type embryos, with a 4.1 times higher frequency of defects such as micropthalmia, anopthalmia, exencephaly, polydactyly or syndactyly
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• dermal cyst is lined with keratinizing epithelium and filled with hair shafts
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nevoid basal cell carcinoma syndrome | DOID:2512 |
OMIM:PS109400 |
J:47421 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• newborns irradiated with X-rays develop increased incidence of medulloblastoma and exhibit a higher mortality compared to irradiated wild-type mice or unirradiated heterozygotes, such that by 38 weeks of age, 33% of wild-type die versus 90% of mutants
• irradiated mutants die predominately from medulloblastomas while wild-type mice die from thymic lymphomas
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• spontaneous medulloblastoma incidence of 7.7%
(J:79666)
• newborns, but not adults, show increased susceptibility to medulloblastoma formation following X-ray irradiation, with 74.5% incidence in mutants compared to 19.2% incidence in unirradiated mutants and 30.4% incidence in irradiated wild-type mice
(J:79666)
• tumors show loss of the wild-type allele
(J:79666)
• susceptibility of radiation-induced medulloblastoma development is increased in females that are ovariectomized compared to non-ovariectomized females
(J:165388)
• estrogen replacement reduces this susceptibility back to levels seen in non-ovariectomized females
(J:165388)
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• newborns, but not adults, show increased susceptibility to medulloblastoma formation following X-ray irradiation, with 51% incidence compared to 7% in non-irradiated mutants
(J:79666)
• susceptibility of radiation-induced medulloblastoma development is increased in females that are ovariectomized compared to non-ovariectomized females
(J:165388)
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• newborns irradiated with X-rays develop increased incidence of medulloblastoma and exhibit a higher mortality compared to irradiated wild-type mice or unirradiated heterozygotes, such that by 38 weeks of age, 33% of wild-type die versus 90% of mutants
• irradiated mutants die predominately from medulloblastomas while wild-type mice die from thymic lymphomas
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• spontaneous medulloblastoma incidence of 7.7%
(J:79666)
• newborns, but not adults, show increased susceptibility to medulloblastoma formation following X-ray irradiation, with 74.5% incidence in mutants compared to 19.2% incidence in unirradiated mutants and 30.4% incidence in irradiated wild-type mice
(J:79666)
• tumors show loss of the wild-type allele
(J:79666)
• susceptibility of radiation-induced medulloblastoma development is increased in females that are ovariectomized compared to non-ovariectomized females
(J:165388)
• estrogen replacement reduces this susceptibility back to levels seen in non-ovariectomized females
(J:165388)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| medulloblastoma | DOID:0050902 |
OMIM:155255 |
J:79666 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Kinked tail, omphalocele, and abnormal skull shape in Ptch1dl/Ptch1tm1Zim embryos
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• domed skull with distinct angular separation from the snout at E18.5
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• small at E18.5
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• domed skull with distinct angular separation from the snout at E18.5
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• at E18.5
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• at E18.5
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• domed skull with distinct angular separation from the snout at E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes die around E9.5
• phenotype is identical to that of mice homozygous only for Siltm1Mku
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• extensive apoptosis in the dorsal midline in the neural folds and in somites
• phenotype is identical to that of mice homozygous only for Siltm1Mku
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• lack of any midline separation at the anterior end of the cranial neural folds
• phenotype is identical to that of mice homozygous only for Siltm1Mku
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• resistance to rhabdomyosarcoma development (longer latency)
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• resistance to rhabdomyosarcoma development (longer latency)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• susceptibility to rhabdomyosarcoma development (shorter latency)
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• susceptibility to rhabdomyosarcoma development (shorter latency)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased noninvasive tumors compared to in Ptch1tm1Zim heterozygotes
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• mice develop medulloblastomas at a reduced incidence and delayed onset with reduced hydrocephalus compared with Ptch1tm1Zim heterozygotes
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• compared to in Ptch1tm1Zim heterozygotes
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• compared to in Ptch1tm1Zim heterozygotes
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• mice develop medulloblastomas at a reduced incidence and delayed onset with reduced hydrocephalus compared with Ptch1tm1Zim heterozygotes
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• reduced compared to in Ptch1tm1Zim heterozygotes
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• compared to in Ptch1tm1Zim heterozygotes
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/10/2024 MGI 6.24 |
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