All Phenotypes Ptch2<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ptch2^tm1Hui/Ptch2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3662661
cx2	Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2⁺ Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3690370
cx3	Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3690366

Allelic Composition	Ptch2^tm1Hui/Ptch2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch2^tm1Hui mutation (0 available); any Ptch2 mutation (44 available)

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

integument

alopecia ( J:112169 )

• seen in 21% of adult males, no hair loss is seen in females

abnormal dermal layer morphology ( J:112169 )

dermal hyperplasia ( J:112169 )

• dermal hyperplasia is seen in 61% of male mice

epidermal hyperplasia ( J:112169 )

• seen in 29% of male mice

skin lesions ( J:112169 )

• 74% of males develop some form of skin lesion consistently located on the dorsal and front paw skin and characterized by dermal hyperplasia, epidermal hyperplasia, hair follicle loss, and/or ulceration

• seen only in male mice

• lesions develop later (9 - 10 months of age) than in homozygous male mice

spontaneous skin ulceration ( J:112169 )

• 3% of males develop spontaneous skin ulcers

Allelic Composition	Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2⁺ Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (113 available)
Ptch2^tm1Pmc mutation (0 available); any Ptch2 mutation (44 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (249 available)

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

neoplasm

neoplasm ( J:112118 )

N	• mice show no increase in tumor incidence compared to Ptch1/Trp53 double null mice

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

neoplasm

increased testicular teratoma incidence ( J:112118 )

• 2/54 males develop testicular teratomas

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

decreased tumor latency ( J:112118 )

• 50% develop tumors by 5 months of age, compared to ~15% of Ptch1-heterozygous, Ptch2-sufficient mice develop tumors by 12 months of age

cardiovascular system

telangiectasia ( J:112118 )

• subcutaneous telangiectasia is observed in 2% of mice

digestive/alimentary system

abnormal intestine morphology ( J:112118 )

• ~19% of mice display intestinal serosal angiectasis

muscle

telangiectasia ( J:112118 )

• subcutaneous telangiectasia is observed in 2% of mice

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

integument

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)

endocrine/exocrine glands

increased testicular teratoma incidence ( J:112118 )

• 2/54 males develop testicular teratomas

reproductive system

increased testicular teratoma incidence ( J:112118 )

• 2/54 males develop testicular teratomas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:112118

Contributing Projects: 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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