Phenotypes Associated with This Genotype

Genotype
MGI:2679475

• Allelic Composition: Ptch1^tm1Zim/Ptch1⁺
• Genetic Background: either: (involves: 129 * C57BL/6) or (involves: 129 * CD-1)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:47421 )

• 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

muscle

increased rhabdomyosarcoma incidence ( J:47421 )

• 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

craniofacial

mandibular cyst ( J:47421 )

• mice exhibit a mandibular cyst lined by squamous epithelium adjacent to a tooth root

embryo

incomplete rostral neuropore closure ( J:47421 )

• 2 of 44 mutants on a CD-1 background at E16.5 exhibit failure of anterior neural tube closure

growth/size/body

mandibular cyst ( J:47421 )

• mice exhibit a mandibular cyst lined by squamous epithelium adjacent to a tooth root

dermal cyst ( J:47421 )

• dermal cyst is lined with keratinizing epithelium and filled with hair shafts

increased body size ( J:47421 )

• generalized overgrowth by 20% at 6-8 weeks of age

increased fetal size ( J:47421 )

• 12% increase in body size at E16.5

limbs/digits/tail

polydactyly ( J:47421 )

preaxial polydactyly ( J:47421 )

nervous system

incomplete rostral neuropore closure ( J:47421 )

• 2 of 44 mutants on a CD-1 background at E16.5 exhibit failure of anterior neural tube closure

increased medulloblastoma incidence ( J:47421 )

• develop medulloblastomas

exencephaly ( J:47421 )

• 2 of 44 mutants on a CD-1 background at E16.5 exhibit failure of anterior neural tube closure leading to exencephaly

skeleton

mandibular cyst ( J:47421 )

• mice exhibit a mandibular cyst lined by squamous epithelium adjacent to a tooth root

abnormal rib morphology ( J:47421 )

• rib anomalies

decreased rib number ( J:47421 )

• missing rib

neoplasm

increased rhabdomyosarcoma incidence ( J:47421 )

• 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

increased medulloblastoma incidence ( J:47421 )

• develop medulloblastomas

increased incidence of tumors by ionizing radiation induction ( J:47421 )

• 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

integument

dermal cyst ( J:47421 )

• dermal cyst is lined with keratinizing epithelium and filled with hair shafts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nevoid basal cell carcinoma syndrome		DOID:2512	OMIM:PS109400	J:47421