All Phenotypes Ptch1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ptch1⁺
wild type
MGI:2153569

Summary

36 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ptch1^tm1Zim/Ptch1⁺	either: (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:2679475
ht2	Ptch1^tm1.1Hahn/Ptch1⁺	involves: 129 * BALB/c * C57BL/6 * FVB/N	MGI:5447578
ht3	Ptch1^tm1Zim/Ptch1⁺	involves: 129 * CD-1	MGI:3040327
ht4	Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:2675737
ht5	Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2173417
ht6	Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:2177702
ht7	Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J	MGI:6259595
ht8	Ptch1^tm1Kmmt/Ptch1⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3610455
cn9	Ptch1^tm1Yy/Ptch1⁺ Tg(BGLAP-cre)1Clem/0	involves: 129 * C57BL/6 * FVB/NJ	MGI:5781000
cn10	Brca2^tm1Brn/Brca2^tm1Brn Ptch1^tm1Mps/Ptch1⁺ Trp53^tm1Tyj/Trp53⁺ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:3831342
cn11	Brca2^tm1Brn/Brca2^tm1Brn Ptch1^tm1Mps/Ptch1⁺ Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:3831343
cn12	Ptch1^tm1Hahn/Ptch1⁺ Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6	MGI:5447639
cn13	Ptch1^tm1Hahn/Ptch1⁺ Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5447638
cn14	Ptch1^tm1Cklr/Ptch1⁺ Trp53^tm1Brn/? Pax7^tm1(cre)Mrc/Pax7⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4453164
cn15	Ptch1^tm1Mps/Ptch1⁺ Tg(Atoh1-sb11)1Mtay/0 TgTn(sb-T2/Onc3)12740Njen/0	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J * ICR	MGI:5317025
cn16	Ptch1^tm1Cklr/Ptch1⁺ Pax7^tm1(cre)Mrc/Pax7⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4453163
cn17	Ptch1^tm1Yy/Ptch1⁺ Trp53^tm1Brd/Trp53⁺ Tg(BGLAP-cre)1Clem/0	involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ	MGI:5781001
cx18	Ptch1^tm1Mps/Ptch1⁺ Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129 * 129S2/SvPas * C57BL/6	MGI:3759458
cx19	Chmp1a^Gt(XC472)Byg/Chmp1a^Gt(XC472)Byg Ptch1^tm1Mps/Ptch1⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6514750
cx20	Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:3710324
cx21	Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2⁺ Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3690370
cx22	Cdkn1b^tm1Mlf/Cdkn1b^tm1Mlf Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6	MGI:5544755
cx23	Cdkn1b^tm1Mlf/Cdkn1b⁺ Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6	MGI:5544754
cx24	Ptch1^tm1Mps/Ptch1⁺ Tg(Shh)#Dje/0	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:3665561
cx25	Ptch1^tm1Mps/Ptch1⁺ Shh^tm6Amc/Shh^tm6Amc	involves: 129S1/Sv * 129X1/SvJ	MGI:3783757
cx26	Disp1^tm1Amc/Disp1^tm1Amc Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3052724
cx27	Hhat^{Tg(TFAP2A-cre)1Will}/Hhat⁺ Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5447987
cx28	Hhip^tm1Amc/Hhip^tm1Amc Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:2675747
cx29	Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2^tm1Pmc	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3690367
cx30	Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5544756
cx31	Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3690366
cx32	Ihh^tm1Amc/Ihh^tm1Amc Ptch1^tm1Mps/Ptch1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:7432575
cx33	Ptch1^tm1Mps/Ptch1⁺ Tg(Atoh1-GFP)1Jejo/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:3836962
cx34	Parms1^C57BL/6NCrl/Parms1^C57BL/6NCrl Ptch1^tm1Zim/Ptch1⁺	involves: 129/Sv * BALB/cByJ * C57BL/6NCrl	MGI:3522459
cx35	Parms1^BALB/cByJ/Parms1^C57BL/6NCrl Ptch1^tm1Zim/Ptch1⁺	involves: 129/Sv * BALB/cByJ * C57BL/6NCrl	MGI:3522460
cx36	Gpr37l1^tm1.2Gtva/Gpr37l1^tm1.2Gtva Ptch1^tm1Zim/Ptch1⁺	STOCK Gpr37l1^tm1.2Gtva Ptch1^tm1Zim/Cnrm	MGI:6429905

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Zim mutation (2 available); any Ptch1 mutation (115 available)

♀	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

Allelic Composition	Ptch1^tm1.1Hahn/Ptch1⁺
Genetic Background	involves: 129 * BALB/c * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1.1Hahn mutation (0 available); any Ptch1 mutation (115 available)

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

mortality/aging

premature death ( J:149148 )

• median survival is 148 days

neoplasm

increased tumor incidence ( J:149148 )

• hamartomatous gastrointestinal cystic tumors in 9 of 110 mice located in wall of the stomach, of the intestine or located within pancreatic ducts

increased rhabdomyosarcoma incidence ( J:149148 )

• in 23 of 110 mice

increased medulloblastoma incidence ( J:149148 )

• in 9 of 110 mice

nervous system

increased medulloblastoma incidence ( J:149148 )

• in 9 of 110 mice

muscle

increased rhabdomyosarcoma incidence ( J:149148 )

• in 23 of 110 mice

Allelic Composition	Ptch1^tm1Zim/Ptch1⁺
Genetic Background	involves: 129 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Zim mutation (2 available); any Ptch1 mutation (115 available)

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

mortality/aging

increased mortality induced by ionizing radiation ( J:79666 )

• 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

neoplasm

increased medulloblastoma incidence ( J:79666 , J:165388 )

• 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)

increased incidence of tumors by ionizing radiation induction ( J:79666 , J:165388 )

• 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)

homeostasis/metabolism

increased mortality induced by ionizing radiation ( J:79666 )

• irradiated mutants die predominately from medulloblastomas while wild-type mice die from thymic lymphomas

nervous system

increased medulloblastoma incidence ( J:79666 , J:165388 )

• spontaneous medulloblastoma incidence of 7.7% (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)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:79666

Allelic Composition	Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

neoplasm

increased skin tumor incidence ( J:82653 )

• mutants develop small tumor foci/buds in the skin; these epithelial invaginations arise from both the hair follicle and the interfollicular epithelium

• tumor buds appear at the first postnatal anagen stage

increased rhabdomyosarcoma incidence ( J:114992 )

• low incidence in around 10% of mice

increased medulloblastoma incidence ( J:102702 , J:114992 , J:144811 )

• low incidence in around 10% of mice (J:114992)

• 15-20% of mice develop medulloblastomas (J:144811)

• tumors consist of small round cells with little cytoplasm and clearly demarcated borders (J:144811)

• 100% of immunocompromised hosts receiving >200,000 tumor cells will develop medulloblastomas with a mean latency of 49 days (J:144811)

• tumor cells expressing CD15⁺ have the characteristics of cancer stem cells including high rates of proliferation and ability to propagate the disease into immunocompromised hosts (J:144811)

integument

focal hair loss ( J:82653 )

• small foci of hair loss are observed, each one in association with epithelial invaginations

increased skin tumor incidence ( J:82653 )

• mutants develop small tumor foci/buds in the skin; these epithelial invaginations arise from both the hair follicle and the interfollicular epithelium

• tumor buds appear at the first postnatal anagen stage

nervous system

increased medulloblastoma incidence ( J:102702 , J:114992 , J:144811 )

• low incidence in around 10% of mice (J:114992)

• 15-20% of mice develop medulloblastomas (J:144811)

• tumors consist of small round cells with little cytoplasm and clearly demarcated borders (J:144811)

• 100% of immunocompromised hosts receiving >200,000 tumor cells will develop medulloblastomas with a mean latency of 49 days (J:144811)

• tumor cells expressing CD15⁺ have the characteristics of cancer stem cells including high rates of proliferation and ability to propagate the disease into immunocompromised hosts (J:144811)

muscle

increased rhabdomyosarcoma incidence ( J:114992 )

• low incidence in around 10% of mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:144811

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

mortality/aging

premature death ( J:112118 )

• with increasing age (>12 months), Ptch1-heterozygous, Ptch2-sufficient mice are less healthy and die with no obvious tumor burden

decreased tumor-free survival time ( J:205254 )

• median survival of mutants that only develop medulloblastoma is 158 days

neoplasm

increased tumor incidence ( J:205254 )

• 14.3% of mutants develop other tumors, including hemangiosarcomas, intestinal tumors, rhabdomyosarcomas, and lymphomas

increased gastrointestinal tumor incidence ( J:205254 )

increased rhabdomyosarcoma incidence ( J:205254 )

increased lymphoma incidence ( J:205254 )

increased medulloblastoma incidence ( J:205254 )

• 42.8% of mutants develop medulloblastoma

• medulloblastomas are noninvasive and exhibit histologic patterns that mimic different phenotypes seen in human medulloblastoma, including classic biphasic phenotype and anaplastic variants

increased hemangiosarcoma incidence ( J:205254 )

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:205254 )

muscle

increased rhabdomyosarcoma incidence ( J:205254 )

nervous system

increased medulloblastoma incidence ( J:205254 )

• 42.8% of mutants develop medulloblastoma

• medulloblastomas are noninvasive and exhibit histologic patterns that mimic different phenotypes seen in human medulloblastoma, including classic biphasic phenotype and anaplastic variants

abnormal cerebellar molecular layer ( J:205254 )

• 1 month old cerebella show preneoplastic lesions in the outer molecular layer where progenitors within the external germinal layer previously resided, suggesting that medulloblastomas arise from granule neuron progenitors

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

neoplasm

increased tumor incidence ( J:42441 )

• soft tissue tumors

increased medulloblastoma incidence ( J:42441 )

• tumors arise as early as 5 weeks of age and increase in severity and frequency with age

growth/size/body

increased body size ( J:42441 )

limbs/digits/tail

polydactyly ( J:42441 )

• seen in a small fraction of heterozygotes

syndactyly ( J:42441 )

• seen in a small fraction of heterozygotes

nervous system

increased medulloblastoma incidence ( J:42441 )

• tumors arise as early as 5 weeks of age and increase in severity and frequency with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nevoid basal cell carcinoma syndrome		DOID:2512	OMIM:PS109400	J:42441

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

♀	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 )

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

Allelic Composition	Ptch1^tm1Kmmt/Ptch1⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Kmmt mutation (0 available); any Ptch1 mutation (115 available)

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

craniofacial

mandibular cyst ( J:102978 )

• detect mandibular cysts in the alveolar bones or periodontal ligaments of the molars in 25.4% of heterozygotes

• 11.1% exhibit solitary mandibular cysts and 14.3% exhibit multiple mandibular cysts

skeleton

mandibular cyst ( J:102978 )

• detect mandibular cysts in the alveolar bones or periodontal ligaments of the molars in 25.4% of heterozygotes

• 11.1% exhibit solitary mandibular cysts and 14.3% exhibit multiple mandibular cysts

growth/size/body

mandibular cyst ( J:102978 )

• detect mandibular cysts in the alveolar bones or periodontal ligaments of the molars in 25.4% of heterozygotes

• 11.1% exhibit solitary mandibular cysts and 14.3% exhibit multiple mandibular cysts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nevoid basal cell carcinoma syndrome		DOID:2512	OMIM:PS109400	J:102978

Allelic Composition	Ptch1^tm1Yy/Ptch1⁺ Tg(BGLAP-cre)1Clem/0
Genetic Background	involves: 129 * C57BL/6 * FVB/NJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Yy mutation (0 available); any Ptch1 mutation (115 available)
Tg(BGLAP-cre)1Clem mutation (1 available)

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

neoplasm

neoplasm ( J:214349 )

N	• mice do not exhibit any bone tumor formation up to 16 months of age

mortality/aging

mortality/aging ( J:214349 )

N	• normal survival rate

Allelic Composition	Brca2^tm1Brn/Brca2^tm1Brn Ptch1^tm1Mps/Ptch1⁺ Trp53^tm1Tyj/Trp53⁺ Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2^tm1Brn mutation (5 available); any Brca2 mutation (132 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Tg(Nes-cre)1Kln mutation (4 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 10 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 10 weeks

Allelic Composition	Brca2^tm1Brn/Brca2^tm1Brn Ptch1^tm1Mps/Ptch1⁺ Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

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

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 5 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 5 weeks

Allelic Composition	Ptch1^tm1Hahn/Ptch1⁺ Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn} mutation (1 available); any Gt(ROSA)26Sor mutation (945 available)
Ptch1^tm1Hahn mutation (1 available); any Ptch1 mutation (115 available)

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

mortality/aging

premature death ( J:149148 )

• median survival in mice subjected to intramuscular treatment with 100 ug tamoxifen at 6 to 8 weeks is 326 days

Allelic Composition	Ptch1^tm1Hahn/Ptch1⁺ Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:149148 )

• median survival in mice subjected to intraperitoneal treatment with 5 mg tamoxifen at 8 weeks is 376 days compared with 441 days for control mice

neoplasm

increased tumor incidence ( J:149148 )

• hamartomatous gastrointestinal cystic tumors in 4 of 32 mice subjected to intraperitoneal treatment with 5 mg tamoxifen at 8 weeks unlike control mice

increased fibroma incidence ( J:149148 )

• in 1 of 32 mice subjected to intraperitoneal treatment with 5 mg tamoxifen at 8 weeks unlike control mice

integument

epidermal cyst ( J:149148 )

• epidermal cysts in 1 of 32 mice subjected to intraperitoneal treatment with 5 mg tamoxifen at 8 weeks unlike control mice

growth/size/body

epidermal cyst ( J:149148 )

• epidermal cysts in 1 of 32 mice subjected to intraperitoneal treatment with 5 mg tamoxifen at 8 weeks unlike control mice

Allelic Composition	Ptch1^tm1Cklr/Ptch1⁺ Trp53^tm1Brn/? Pax7^tm1(cre)Mrc/Pax7⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax7^tm1(cre)Mrc mutation (3 available); any Pax7 mutation (39 available)
Ptch1^tm1Cklr mutation (1 available); any Ptch1 mutation (115 available)
Trp53^tm1Brn mutation (18 available); any Trp53 mutation (232 available)

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

neoplasm

increased medulloblastoma incidence ( J:159972 )

• earlier tumor onset, from 32 to 65 days of age

• bortezomib treated mice have better survival

nervous system

increased medulloblastoma incidence ( J:159972 )

• bortezomib treated mice have better survival

• earlier tumor onset, from 32 to 65 days of age

Allelic Composition	Ptch1^tm1Mps/Ptch1⁺ Tg(Atoh1-sb11)1Mtay/0 TgTn(sb-T2/Onc3)12740Njen/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Tg(Atoh1-sb11)1Mtay mutation (0 available)
TgTn(sb-T2/Onc3)12740Njen mutation (1 available)

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

neoplasm

increased medulloblastoma incidence ( J:181542 )

• 271 of 279 mice develop medulloblastoma compared with 54 of 139 control mice with decreased latency (2.5 months compared with 8 months)

nervous system

increased medulloblastoma incidence ( J:181542 )

• 271 of 279 mice develop medulloblastoma compared with 54 of 139 control mice with decreased latency (2.5 months compared with 8 months)

Allelic Composition	Ptch1^tm1Cklr/Ptch1⁺ Pax7^tm1(cre)Mrc/Pax7⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

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

behavior/neurological

ataxia ( J:159972 )

• 9 of 30 double heterozygous mice become ataxic starting around 88-100 days of age

neoplasm

increased medulloblastoma incidence ( J:159972 )

• all ataxic mice have rapidly growing tumors in the cerebellum

• high nuclear to cytoplasm ratio in tumor cells

• tumors invade the subarachnoid space

• evidence of leptomeningeal metastasis

nervous system

increased medulloblastoma incidence ( J:159972 )

• all ataxic mice have rapidly growing tumors in the cerebellum

• high nuclear to cytoplasm ratio in tumor cells

• tumors invade the subarachnoid space

• evidence of leptomeningeal metastasis

Allelic Composition	Ptch1^tm1Yy/Ptch1⁺ Trp53^tm1Brd/Trp53⁺ Tg(BGLAP-cre)1Clem/0
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Yy mutation (0 available); any Ptch1 mutation (115 available)
Tg(BGLAP-cre)1Clem mutation (1 available)
Trp53^tm1Brd mutation (5 available); any Trp53 mutation (232 available)

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

behavior/neurological

paralysis ( J:214349 )

• lower body paralysis due to spine tumors

neoplasm

increased metastatic potential ( J:214349 )

• occasionally, pulmonary metastasis is seen in the lungs

increased osteosarcoma incidence ( J:214349 )

• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance

• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull

• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma

• the majority of mutants develop only bone tumors

skeleton

increased osteosarcoma incidence ( J:214349 )

• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance

• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull

• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma

• the majority of mutants develop only bone tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteosarcoma		DOID:3347	OMIM:259500	J:214349

Allelic Composition	Ptch1^tm1Mps/Ptch1⁺ Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129 * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

mortality/aging

premature death ( J:125534 )

• mice die around 2 months of age compared to Trp53^tm1Tyj that survive to 5 months

neoplasm

increased rhabdomyosarcoma incidence ( J:125534 )

• 3 of 16 mice develop rhabdomyosarcoma

increased medulloblastoma incidence ( J:125534 )

• 15 of 16 mice develop medulloblastomas that express TUBB3 and GFAP and exhibit increased apoptosis

muscle

increased rhabdomyosarcoma incidence ( J:125534 )

• 3 of 16 mice develop rhabdomyosarcoma

nervous system

increased medulloblastoma incidence ( J:125534 )

• 15 of 16 mice develop medulloblastomas that express TUBB3 and GFAP and exhibit increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:67452

Allelic Composition	Chmp1a^Gt(XC472)Byg/Chmp1a^Gt(XC472)Byg Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chmp1a^Gt(XC472)Byg mutation (1 available); any Chmp1a mutation (15 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

nervous system

nervous system phenotype ( J:271138 )

N	• at E18.5/P0, brain weight is not significantly different from that in controls, indicating that the microcephaly of Chmp1a^Gt(XC472)Byg homozygotes (reflecting reduced Shh function) is reversed

Allelic Composition	Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2c^tm1Bbd mutation (1 available); any Cdkn2c mutation (16 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

nervous system

abnormal neuron differentiation ( J:102702 )

• granule neuronal precursors (GNPs) show enhanced proliferation after stimulation with Shh in culture relative to Ptch1 heterozygous, Cdkn2c wild-type cerebellar cells isolated at P10

increased medulloblastoma incidence ( J:102702 )

• mice exhibit earlier onset of tumor formation with greatly increased incidence compared to Ptch1 heterozygotes

neoplasm

increased medulloblastoma incidence ( J:102702 )

• mice exhibit earlier onset of tumor formation with greatly increased incidence compared to Ptch1 heterozygotes

cellular

abnormal neuron differentiation ( J:102702 )

• granule neuronal precursors (GNPs) show enhanced proliferation after stimulation with Shh in culture relative to Ptch1 heterozygous, Cdkn2c wild-type cerebellar cells isolated at P10

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:102702

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 (115 available)
Ptch2^tm1Pmc mutation (0 available); any Ptch2 mutation (47 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 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

Allelic Composition	Cdkn1b^tm1Mlf/Cdkn1b^tm1Mlf Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1b^tm1Mlf mutation (2 available); any Cdkn1b mutation (25 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

mortality/aging

premature death ( J:205254 )

• median survival of mutants that only develop medulloblastoma is 114 days

neoplasm

increased tumor incidence ( J:205254 )

• 30% of mutants develop other tumors, including hemangiosarcomas, intestinal tumors, rhabdomyosarcomas, and lymphomas

• however, no pituitary tumors are seen

increased gastrointestinal tumor incidence ( J:205254 )

increased rhabdomyosarcoma incidence ( J:205254 )

increased lymphoma incidence ( J:205254 )

increased medulloblastoma incidence ( J:205254 )

• 66.7% of mutants develop medulloblastoma

• formation of medulloblastoma formation is accelerated compared to single Ptch1 heterozygotes or double heterozygotes

• medulloblastomas are less differentiated and more invasive than medulloblastomas from single Ptch1 heterozygotes

increased hemangiosarcoma incidence ( J:205254 )

nervous system

increased medulloblastoma incidence ( J:205254 )

• 66.7% of mutants develop medulloblastoma

• formation of medulloblastoma formation is accelerated compared to single Ptch1 heterozygotes or double heterozygotes

• medulloblastomas are less differentiated and more invasive than medulloblastomas from single Ptch1 heterozygotes

hydrocephaly ( J:205254 )

• fraction of mutants develop hydrocephalus unrelated to tumor formation

abnormal cerebellar molecular layer ( J:205254 )

muscle

increased rhabdomyosarcoma incidence ( J:205254 )

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:205254 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:205254

Allelic Composition	Cdkn1b^tm1Mlf/Cdkn1b⁺ Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:205254 )

• median survival of mutants that only develop medulloblastoma is 127 days

neoplasm

increased tumor incidence ( J:205254 )

• 11.8% of mutants develop other tumors, including hemangiosarcomas, intestinal tumors, rhabdomyosarcomas, and lymphomas

increased gastrointestinal tumor incidence ( J:205254 )

increased rhabdomyosarcoma incidence ( J:205254 )

increased lymphoma incidence ( J:205254 )

increased medulloblastoma incidence ( J:205254 )

• 59.7% of mutants develop medulloblastoma

• medulloblastomas are less differentiated and more invasive than medulloblastomas from single Ptch1 heterozygotes, sometimes penetrating the white matter and sometimes obliterating the normal contours of the cerebellar lobes

increased hemangiosarcoma incidence ( J:205254 )

nervous system

increased medulloblastoma incidence ( J:205254 )

• 59.7% of mutants develop medulloblastoma

hydrocephaly ( J:205254 )

• fraction of mutants develop hydrocephalus unrelated to tumor formation

abnormal cerebellar molecular layer ( J:205254 )

muscle

increased rhabdomyosarcoma incidence ( J:205254 )

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:205254 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:205254

Allelic Composition	Ptch1^tm1Mps/Ptch1⁺ Tg(Shh)#Dje/0
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Tg(Shh)#Dje mutation (0 available)

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

nervous system

abnormal cerebellum morphology ( J:108507 )

• cerebellum is larger than in Tg(Shh)#Dje-expressing mice

abnormal cerebellum development ( J:108507 )

• mutants have an extra lobule on rostral face of lobule VI

abnormal cerebellar foliation ( J:108507 )

• foliation is not enhanced compared to non transgenic conditional Gli2 knockouts

Allelic Composition	Ptch1^tm1Mps/Ptch1⁺ Shh^tm6Amc/Shh^tm6Amc
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Shh^tm6Amc mutation (1 available); any Shh mutation (45 available)

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

normal phenotype

no abnormal phenotype detected ( J:132152 )

• significantly normalized the size of each neural progenitor domains and the gross phenotype of Shh^tm6Amc/Shh^tm6Amc homozygous mice

• authors did not mention whether the prenatal lethality phenotype found in Shh^tm6Amc/Shh^tm6Amc homozygous mice was rescued or not

Allelic Composition	Disp1^tm1Amc/Disp1^tm1Amc Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Disp1^tm1Amc mutation (0 available); any Disp1 mutation (61 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

normal phenotype

no abnormal phenotype detected ( J:92058 )

• viable fertile, and outwardly normal

nervous system

nervous system phenotype ( J:92058 )

N	• normal floor plate and progenitor/precursor neuron patterning

Allelic Composition	Hhat^{Tg(TFAP2A-cre)1Will}/Hhat⁺ Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhat^{Tg(TFAP2A-cre)1Will} mutation (1 available); any Hhat mutation (26 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

craniofacial

abnormal craniofacial morphology ( J:190013 )

• E17.5-18.5 embryos have craniofacial defects that are not consistent with holoprosencephaly showing that the transgene did not insert into Ptch1.

Allelic Composition	Hhip^tm1Amc/Hhip^tm1Amc Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhip^tm1Amc mutation (1 available); any Hhip mutation (43 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:85472 )

• accelerated lethality before E13

growth/size/body

increased embryo size ( J:94269 )

• about 56% of embryos

respiratory system

small lung ( J:85472 )

• much smaller lungs

abnormal pulmonary alveolar duct morphology ( J:94269 )

• branching pattern defect much more severe

nervous system

abnormal neural tube morphology ( J:94269 )

• enlarged neural tube

• ventricular zone grossly normal

incomplete rostral neuropore closure ( J:94269 )

• normal sized embryos with "open brains"

• moderate overgrowth in some cases

increased neuronal precursor cell number ( J:94269 )

• general expansion of neuronal precursor populations

digestive/alimentary system

abnormal stomach glandular epithelium morphology ( J:85472 )

• very reduced in thickness

endocrine/exocrine glands

abnormal pancreas development ( J:85472 )

• at E12.5, pancreas morphogenesis and cell differentiation are severely impaired

abnormal branching involved in pancreas development ( J:85472 )

• impaired branching of pancreatic epithelium into surrounding mesenchyme

• pancreatic epithelium significantly reduced

embryo

increased embryo size ( J:94269 )

• about 56% of embryos

abnormal neural tube morphology ( J:94269 )

• enlarged neural tube

• ventricular zone grossly normal

incomplete rostral neuropore closure ( J:94269 )

• normal sized embryos with "open brains"

• moderate overgrowth in some cases

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

Find Mice

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

neoplasm

increased tumor incidence ( J:112118 )

• increased tumorigenesis is readily apparent in 6th-generation compound mutants

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

increased medulloblastoma incidence ( J:112118 )

• occur with higher frequency

decreased tumor latency ( J:112118 )

• 50% develop tumors by 10 months of age, compared to ~15% of Ptch1-heterozygous, Ptch2-sufficient mice develop tumors by 12 months of age

digestive/alimentary system

abnormal intestine morphology ( J:112118 )

• ~18% of mice display intestinal serosal angiectasis

integument

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)

nervous system

increased medulloblastoma incidence ( J:112118 )

• occur with higher frequency

muscle

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

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

Allelic Composition	Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

neoplasm

increased medulloblastoma incidence ( J:205254 )

• 7 of 11 mutants exhibit invasive medulloblastoma

nervous system

increased medulloblastoma incidence ( J:205254 )

• 7 of 11 mutants exhibit invasive medulloblastoma

abnormal cerebellar molecular layer ( J:205254 )

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

Find 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

Allelic Composition	Ihh^tm1Amc/Ihh^tm1Amc Ptch1^tm1Mps/Ptch1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihh^tm1Amc mutation (1 available); any Ihh mutation (22 available)
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)

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

craniofacial

abnormal palatal shelf bone ossification ( J:182649 )

• at E16.5 and E18.5, Xgal staining is reduced in the palate, predominantly at the ossification fronts of the palatine bone, indicating reduced ossification of the secondary hard palate

digestive/alimentary system

abnormal palatal shelf bone ossification ( J:182649 )

• at E16.5 and E18.5, Xgal staining is reduced in the palate, predominantly at the ossification fronts of the palatine bone, indicating reduced ossification of the secondary hard palate

growth/size/body

abnormal palatal shelf bone ossification ( J:182649 )

• at E16.5 and E18.5, Xgal staining is reduced in the palate, predominantly at the ossification fronts of the palatine bone, indicating reduced ossification of the secondary hard palate

Allelic Composition	Ptch1^tm1Mps/Ptch1⁺ Tg(Atoh1-GFP)1Jejo/?
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Tg(Atoh1-GFP)1Jejo mutation (0 available)

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

neoplasm

increased medulloblastoma incidence ( J:144811 )

• 80-95% of tumor cells express GFP

• GFP⁺ tumor cells but not GFP^- are able to propagate tumors into immunocompromised hosts

nervous system

increased medulloblastoma incidence ( J:144811 )

• 80-95% of tumor cells express GFP

• GFP⁺ tumor cells but not GFP^- are able to propagate tumors into immunocompromised hosts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:144811

Allelic Composition	Parms1^C57BL/6NCrl/Parms1^C57BL/6NCrl Ptch1^tm1Zim/Ptch1⁺
Genetic Background	involves: 129/Sv * BALB/cByJ * C57BL/6NCrl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Parms1^C57BL/6NCrl mutation (0 available); any Parms1 mutation (0 available)
Ptch1^tm1Zim mutation (2 available); any Ptch1 mutation (115 available)

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

neoplasm

increased rhabdomyosarcoma incidence ( J:93364 )

• resistance to rhabdomyosarcoma development (longer latency)

muscle

increased rhabdomyosarcoma incidence ( J:93364 )

• resistance to rhabdomyosarcoma development (longer latency)

Allelic Composition	Parms1^BALB/cByJ/Parms1^C57BL/6NCrl Ptch1^tm1Zim/Ptch1⁺
Genetic Background	involves: 129/Sv * BALB/cByJ * C57BL/6NCrl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Parms1^BALB/cByJ mutation (0 available); any Parms1 mutation (0 available)
Parms1^C57BL/6NCrl mutation (0 available); any Parms1 mutation (0 available)
Ptch1^tm1Zim mutation (2 available); any Ptch1 mutation (115 available)

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

neoplasm

increased rhabdomyosarcoma incidence ( J:93364 )

• susceptibility to rhabdomyosarcoma development (shorter latency)

muscle

increased rhabdomyosarcoma incidence ( J:93364 )

• susceptibility to rhabdomyosarcoma development (shorter latency)

Allelic Composition	Gpr37l1^tm1.2Gtva/Gpr37l1^tm1.2Gtva Ptch1^tm1Zim/Ptch1⁺
Genetic Background	STOCK Gpr37l1^tm1.2Gtva Ptch1^tm1Zim/Cnrm

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpr37l1^tm1.2Gtva mutation (0 available); any Gpr37l1 mutation (32 available)
Ptch1^tm1Zim mutation (2 available); any Ptch1 mutation (115 available)

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

neoplasm

increased tumor incidence ( J:272049 )

• increased noninvasive tumors compared to in Ptch1^tm1Zim heterozygotes

increased medulloblastoma incidence ( J:272049 )

• mice develop medulloblastomas at a reduced incidence and delayed onset with reduced hydrocephalus compared with Ptch1^tm1Zim heterozygotes

increased tumor latency ( J:272049 )

• compared to in Ptch1^tm1Zim heterozygotes

nervous system

decreased cerebellar granule cell precursor proliferation ( J:272049 )

• compared to in Ptch1^tm1Zim heterozygotes

increased medulloblastoma incidence ( J:272049 )

• mice develop medulloblastomas at a reduced incidence and delayed onset with reduced hydrocephalus compared with Ptch1^tm1Zim heterozygotes

hydrocephaly ( J:272049 )

• reduced compared to in Ptch1^tm1Zim heterozygotes

cellular

decreased cerebellar granule cell precursor proliferation ( J:272049 )

• compared to in Ptch1^tm1Zim heterozygotes

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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