Phenotypes Associated with This Genotype

Genotype
MGI:6259595

• Allelic Composition: Ptch1^tm1Mps/Ptch1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J

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

neoplasm

increased basal cell carcinoma incidence ( J:58328 )

• mice over 9 months of age exhibit microscopic skin tumors that resemble human tumors of follicular origin and paw biopsies show demarcated stratum corneum defects or pits with underlying basal cell carcinoma-like tumors resembling the palmar pits of basal cell nevus syndrome patients

increased incidence of tumors by UV-induction ( J:58328 )

• mice exposed to chronic ultraviolet radiation show an increase in the number and size of basaloid cell tumors such that by 11 months of UV exposure, 86% of mice develop cutaneous tumors

• about 20% of UV-induced tumors are basal cell carcinoma or trichoblastomas, 30% are squamous cell carcinomas or keratoacanthomas, and 50% are fibrosarcomas or fibromas

• after 12 months of chronic UV exposure, all mice have tumors with features of basal cell carcinoma, with 44% classified as superficial, mostly interfollicular basaloid proliferations, 13% with features of nodular or infiltrating basal cell carcinoma, and 43% with features of trichoblastoma

• basal cell carcinoma and trichoblastoma show Ptch1 loss of heterozygosity

• 57% of mice receiving 11-12 months of UV exposure show invasive squamous cell carcinomas or keratoacanthomas compared to 25% of wild-type mice

increased incidence of tumors by ionizing radiation induction ( J:58328 )

• mice exposed to a single dose of ionizing radiation develop trichoblastoma-like tumors

• however, ionizing radiation treated mice do not develop fibrosarcomas or squamous cell carcinomas

integument

increased basal cell carcinoma incidence ( J:58328 )

• mice over 9 months of age exhibit microscopic skin tumors that resemble human tumors of follicular origin and paw biopsies show demarcated stratum corneum defects or pits with underlying basal cell carcinoma-like tumors resembling the palmar pits of basal cell nevus syndrome patients

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
basal cell carcinoma		DOID:2513		J:58328