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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptch1tm1Mps
targeted mutation 1, Matthew P Scott
MGI:1857447
Summary 38 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptch1tm1Mps/Ptch1tm1Mps involves: 129S1/Sv * 129X1/SvJ MGI:4461985
hm2
Ptch1tm1Mps/Ptch1tm1Mps involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2 MGI:2655205
hm3
Ptch1tm1Mps/Ptch1tm1Mps involves: 129S1/Sv *129X1/SvJ * Swiss Webster MGI:3795860
ht4
Ptch1tm1Mps/Ptch1+ involves: 129S1/Sv * 129X1/SvJ MGI:2675737
ht5
Ptch1tm1Mps/Ptch1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2173417
ht6
Ptch1tm1Mps/Ptch1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2 MGI:2177702
ht7
Ptch1tm1Mps/Ptch1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J MGI:6259595
ht8
Ptch1dl/Ptch1tm1Mps involves: 129S1/SvImJ * 129X1/SvJ * C57BL/6J MGI:5544603
cn9
Brca2tm1Brn/Brca2tm1Brn
Ptch1tm1Mps/Ptch1+
Trp53tm1Tyj/Trp53tm1Tyj
Tg(Nes-cre)1Kln/0
involves: 129 * C57BL/6 * SJL MGI:3831343
cn10
Brca2tm1Brn/Brca2tm1Brn
Ptch1tm1Mps/Ptch1+
Trp53tm1Tyj/Trp53+
Tg(Nes-cre)1Kln/0
involves: 129 * C57BL/6 * SJL MGI:3831342
cn11
Ptch1tm1Mps/Ptch1+
Tg(Atoh1-sb11)1Mtay/0
TgTn(sb-T2/Onc3)12740Njen/0
involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J * ICR MGI:5317025
cx12
Ptch1tm1Mps/Ptch1+
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129 * 129S2/SvPas * C57BL/6 MGI:3759458
cx13
Chmp1aGt(XC472)Byg/Chmp1aGt(XC472)Byg
Ptch1tm1Mps/Ptch1+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2 MGI:6514750
cx14
Cdkn2ctm1Bbd/Cdkn2ctm1Bbd
Ptch1tm1Mps/Ptch1+
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ MGI:3710324
cx15
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3690370
cx16
Cdkn1btm1Mlf/Cdkn1b+
Ptch1tm1Mps/Ptch1+
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 MGI:5544754
cx17
Cdkn1btm1Mlf/Cdkn1btm1Mlf
Ptch1tm1Mps/Ptch1+
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 MGI:5544755
cx18
Gli2tm3.1Blnw/Gli2tm3.1Blnw
Ptch1tm1Mps/?
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C3H * C57BL/6 MGI:5432799
cx19
Ptch1tm1Mps/Ptch1+
Tg(Shh)#Dje/0
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster MGI:3665561
cx20
Mtss1tm1Pla/Mtss1tm1Pla
Ptch1tm1Mps/Ptch1tm1Mps
involves: 129S1/Sv * 129X1/SvJ MGI:5319221
cx21
Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1+
involves: 129S1/Sv * 129X1/SvJ MGI:2675747
cx22
HhatTg(TFAP2A-cre)1Will/Hhat+
Ptch1tm1Mps/Ptch1+
involves: 129S1/Sv * 129X1/SvJ MGI:5447987
cx23
Ptch1tm1Mps/Ptch1+
Shhtm6Amc/Shhtm6Amc
involves: 129S1/Sv * 129X1/SvJ MGI:3783757
cx24
Disp1tm1Amc/Disp1tm1Amc
Ptch1tm1Mps/Ptch1+
involves: 129S1/Sv * 129X1/SvJ MGI:3052724
cx25
Gli1tm1Alj/Gli1tm1Alj
Ptch1tm1Mps/Ptch1tm1Mps
involves: 129S1/Sv * 129X1/SvJ * Black Swiss * Swiss Webster MGI:3795858
cx26
Disp1icb/Disp1icb
Ptch1tm1Mps/Ptch1tm1Mps
involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J MGI:5803873
cx27
Ptch1tm1Mps/Ptch1tm1Mps
Tmem107schlei/Tmem107schlei
involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J MGI:5433092
cx28
Cdkn2ctm1Bbd/Cdkn2ctm1Bbd
Ptch1tm1Mps/Ptch1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5544756
cx29
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2tm1Pmc
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3690367
cx30
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3690366
cx31
Ptch1tm1Mps/Ptch1+
Tg(Atoh1-GFP)1Jejo/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2 MGI:3836962
cx32
Dync2h1lln/Dync2h1lln
Ptch1tm1Mps/Ptch1tm1Mps
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3624275
cx33
Ptch1tm1Mps/Ptch1tm1Mps
Wdpcpcys40/Wdpcpcys40
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5558105
cx34
Kif7maki/Kif7maki
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Hlxb9-GFP)1Tmj/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:4355990
cx35
Hhiptm1Amc/Hhip+
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:3617156
cx36
Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:3617157
cx37
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:3617155
cx38
Gli2tm1Alj/Gli2tm1Alj
Ptch1tm1Mps/Ptch1tm1Mps
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster MGI:3795856


Genotype
MGI:4461985
hm1
Allelic
Composition
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• open brain regions and extensive rostral malformations in E8.5 14-16 somite embryos

mortality/aging
• embryos are arrested stage E9-E9.5 with at least 14-16 somites

nervous system
• open brain regions and extensive rostral malformations in E8.5 14-16 somite embryos




Genotype
MGI:2655205
hm2
Allelic
Composition
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos die between E9.0 and E10.5

nervous system
• neural tube fails to close completely and is overgrown in the head folds, hindbrain, and spinal cord

cardiovascular system
• heart is not properly formed

embryo
• neural tube fails to close completely and is overgrown in the head folds, hindbrain, and spinal cord




Genotype
MGI:3795860
hm3
Allelic
Composition
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv *129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygous embryos are recovered at E10.5 from intercrosses of double heterozygous Gli2, Ptc mice




Genotype
MGI:2675737
ht4
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• low incidence in around 10% of mice

neoplasm
• 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
• low incidence in around 10% of mice
• 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
• small foci of hair loss are observed, each one in association with epithelial invaginations
• 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

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




Genotype
MGI:2173417
ht5
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system

muscle

mortality/aging
• with increasing age (>12 months), Ptch1-heterozygous, Ptch2-sufficient mice are less healthy and die with no obvious tumor burden (J:112118)
• median survival of mutants that only develop medulloblastoma is 158 days (J:205254)

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

nervous system
• 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
• 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




Genotype
MGI:2177702
ht6
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• tumors arise as early as 5 weeks of age and increase in severity and frequency with age

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

growth/size/body

limbs/digits/tail
• seen in a small fraction of heterozygotes
• seen in a small fraction of heterozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nevoid basal cell carcinoma syndrome DOID:2512 OMIM:109400
J:42441




Genotype
MGI:6259595
ht7
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 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
• 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
• 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
• 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




Genotype
MGI:5544603
ht8
Allelic
Composition
Ptch1dl/Ptch1tm1Mps
Genetic
Background
involves: 129S1/SvImJ * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1dl mutation (0 available); any Ptch1 mutation (88 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities in Ptch1dl/Ptch1tm1Mps mice

mortality/aging
• some mice are dead upon collection at E18.5

craniofacial
• mice with normal neural closure exhibit craniofacial defects similar to in Ptch1dl homozygotes
• defects in the formation of endochondrial bones of the calvaria that are more severe than in Ptch1dl homozygotes
• fusion of the parietal and interparietal bones
• fusion of the parietal and interparietal bones
• underdeveloped

limbs/digits/tail
• in all forelimbs and the majority of hindlimbs
• in all forelimbs and the majority of hindlimbs

nervous system
• in several mice at E18.5

digestive/alimentary system
• underdeveloped

skeleton
• defects in the formation of endochondrial bones of the calvaria that are more severe than in Ptch1dl homozygotes
• fusion of the parietal and interparietal bones
• fusion of the parietal and interparietal bones
• in 5 of 10 mice
• disorganized and thicker than in control mice with more ossification

growth/size/body
• underdeveloped




Genotype
MGI:3831343
cn9
Allelic
Composition
Brca2tm1Brn/Brca2tm1Brn
Ptch1tm1Mps/Ptch1+
Trp53tm1Tyj/Trp53tm1Tyj
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2tm1Brn mutation (4 available); any Brca2 mutation (91 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Nes-cre)1Kln mutation (4 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (205 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 100% of mice develop medulloblastoma beginning at 5 weeks

neoplasm
• 100% of mice develop medulloblastoma beginning at 5 weeks




Genotype
MGI:3831342
cn10
Allelic
Composition
Brca2tm1Brn/Brca2tm1Brn
Ptch1tm1Mps/Ptch1+
Trp53tm1Tyj/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:
Brca2tm1Brn mutation (4 available); any Brca2 mutation (91 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Nes-cre)1Kln mutation (4 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (205 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 100% of mice develop medulloblastoma beginning at 10 weeks

neoplasm
• 100% of mice develop medulloblastoma beginning at 10 weeks




Genotype
MGI:5317025
cn11
Allelic
Composition
Ptch1tm1Mps/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:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 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
nervous system
• 271 of 279 mice develop medulloblastoma compared with 54 of 139 control mice with decreased latency (2.5 months compared with 8 months)

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




Genotype
MGI:3759458
cx12
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129 * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (205 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 15 of 16 mice develop medulloblastomas that express TUBB3 and GFAP and exhibit increased apoptosis

muscle
• 3 of 16 mice develop rhabdomyosarcoma

mortality/aging
• mice die around 2 months of age compared to Trp53tm1Tyj that survive to 5 months

neoplasm
• 3 of 16 mice develop rhabdomyosarcoma
• 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




Genotype
MGI:6514750
cx13
Allelic
Composition
Chmp1aGt(XC472)Byg/Chmp1aGt(XC472)Byg
Ptch1tm1Mps/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:
Chmp1aGt(XC472)Byg mutation (1 available); any Chmp1a mutation (16 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• at E18.5/P0, brain weight is not significantly different from that in controls, indicating that the microcephaly of Chmp1aGt(XC472)Byg homozygotes (reflecting reduced Shh function) is reversed




Genotype
MGI:3710324
cx14
Allelic
Composition
Cdkn2ctm1Bbd/Cdkn2ctm1Bbd
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2ctm1Bbd mutation (1 available); any Cdkn2c mutation (13 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• mice exhibit earlier onset of tumor formation with greatly increased incidence compared to Ptch1 heterozygotes

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

cellular
• 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




Genotype
MGI:3690370
cx15
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (29 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (205 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• mice show no increase in tumor incidence compared to Ptch1/Trp53 double null mice




Genotype
MGI:5544754
cx16
Allelic
Composition
Cdkn1btm1Mlf/Cdkn1b+
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1btm1Mlf mutation (2 available); any Cdkn1b mutation (20 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle

digestive/alimentary system

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

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

nervous system
• 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
• fraction of mutants develop hydrocephalus unrelated to tumor formation
• 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

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




Genotype
MGI:5544755
cx17
Allelic
Composition
Cdkn1btm1Mlf/Cdkn1btm1Mlf
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1btm1Mlf mutation (2 available); any Cdkn1b mutation (20 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle

digestive/alimentary system

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

neoplasm
• 30% of mutants develop other tumors, including hemangiosarcomas, intestinal tumors, rhabdomyosarcomas, and lymphomas
• however, no pituitary tumors are seen
• 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

nervous system
• 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
• fraction of mutants develop hydrocephalus unrelated to tumor formation
• 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

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




Genotype
MGI:5432799
cx18
Allelic
Composition
Gli2tm3.1Blnw/Gli2tm3.1Blnw
Ptch1tm1Mps/?
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli2tm3.1Blnw mutation (0 available); any Gli2 mutation (147 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• at E10.5, Patch1-lacZ expression is slightly increased and dorsally expanded in the neural tube compared to in wild-type mice

nervous system
• at E10.5, Patch1-lacZ expression is slightly increased and dorsally expanded in the neural tube compared to in wild-type mice




Genotype
MGI:3665561
cx19
Allelic
Composition
Ptch1tm1Mps/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:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Shh)#Dje mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• cerebellum is larger than in Tg(Shh)#Dje-expressing mice
• mutants have an extra lobule on rostral face of lobule VI
• foliation is not enhanced compared to non transgenic conditional Gli2 knockouts




Genotype
MGI:5319221
cx20
Allelic
Composition
Mtss1tm1Pla/Mtss1tm1Pla
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtss1tm1Pla mutation (0 available); any Mtss1 mutation (116 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryonic lethality observed in Ptch1tm1Mps homozygotes is not rescued




Genotype
MGI:2675747
cx21
Allelic
Composition
Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhiptm1Amc mutation (1 available); any Hhip mutation (29 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• accelerated lethality before E13

growth/size/body
• about 56% of embryos

respiratory system
• much smaller lungs
• branching pattern defect much more severe

nervous system
• enlarged neural tube
• ventricular zone grossly normal
• normal sized embryos with "open brains"
• moderate overgrowth in some cases
• general expansion of neuronal precursor populations

digestive/alimentary system

endocrine/exocrine glands
• at E12.5, pancreas morphogenesis and cell differentiation are severely impaired
• impaired branching of pancreatic epithelium into surrounding mesenchyme
• pancreatic epithelium significantly reduced

embryo
• about 56% of embryos
• enlarged neural tube
• ventricular zone grossly normal
• normal sized embryos with "open brains"
• moderate overgrowth in some cases




Genotype
MGI:5447987
cx22
Allelic
Composition
HhatTg(TFAP2A-cre)1Will/Hhat+
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
HhatTg(TFAP2A-cre)1Will mutation (1 available); any Hhat mutation (21 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• E17.5-18.5 embryos have craniofacial defects that are not consistent with holoprosencephaly showing that the transgene did not insert into Ptch1.




Genotype
MGI:3783757
cx23
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Shhtm6Amc/Shhtm6Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Shhtm6Amc mutation (1 available); any Shh mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• significantly normalized the size of each neural progenitor domains and the gross phenotype of Shhtm6Amc/Shhtm6Amc homozygous mice
• authors did not mention whether the prenatal lethality phenotype found in Shhtm6Amc/Shhtm6Amc homozygous mice was rescued or not




Genotype
MGI:3052724
cx24
Allelic
Composition
Disp1tm1Amc/Disp1tm1Amc
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Disp1tm1Amc mutation (0 available); any Disp1 mutation (34 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable fertile, and outwardly normal

nervous system
N
• normal floor plate and progenitor/precursor neuron patterning




Genotype
MGI:3795858
cx25
Allelic
Composition
Gli1tm1Alj/Gli1tm1Alj
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * Black Swiss * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli1tm1Alj mutation (0 available); any Gli1 mutation (38 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mutants are recovered after E9.5




Genotype
MGI:5803873
cx26
Allelic
Composition
Disp1icb/Disp1icb
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Disp1icb mutation (0 available); any Disp1 mutation (34 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos arrested at E9.0-9.5

nervous system
• neural tube was ventralized

embryo
• neural tube was ventralized

growth/size/body
• heads of the embryos appeared truncated




Genotype
MGI:5433092
cx27
Allelic
Composition
Ptch1tm1Mps/Ptch1tm1Mps
Tmem107schlei/Tmem107schlei
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tmem107schlei mutation (0 available); any Tmem107 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• neural tube closure defects observed in Ptch1tm1Mps homozygotes are partially rescued

growth/size/body
• reduced embryo size observed in Ptch1tm1Mps homozygotes is partially rescued
• head formation defects observed in Ptch1tm1Mps homozygotes are partially rescued

embryo
• reduced embryo size observed in Ptch1tm1Mps homozygotes is partially rescued
• neural tube closure defects observed in Ptch1tm1Mps homozygotes are partially rescued




Genotype
MGI:5544756
cx28
Allelic
Composition
Cdkn2ctm1Bbd/Cdkn2ctm1Bbd
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn2ctm1Bbd mutation (1 available); any Cdkn2c mutation (13 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 7 of 11 mutants exhibit invasive medulloblastoma

nervous system
• 7 of 11 mutants exhibit invasive medulloblastoma
• 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




Genotype
MGI:3690367
cx29
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2tm1Pmc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• occur with higher frequency

muscle
• incidence is increased in frequency

neoplasm
• increased tumorigenesis is readily apparent in 6th-generation compound mutants
• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)
• incidence is increased in frequency
• occur with higher frequency
• 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
• ~18% of mice display intestinal serosal angiectasis

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

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




Genotype
MGI:3690366
cx30
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• 2/54 males develop testicular teratomas

endocrine/exocrine glands
• 2/54 males develop testicular teratomas

neoplasm
• 2/54 males develop testicular teratomas
• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)
• incidence is increased in frequency
• 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
• subcutaneous telangiectasia is observed in 2% of mice

digestive/alimentary system
• ~19% of mice display intestinal serosal angiectasis

muscle
• subcutaneous telangiectasia is observed in 2% of mice
• incidence is increased in frequency

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

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




Genotype
MGI:3836962
cx31
Allelic
Composition
Ptch1tm1Mps/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:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Atoh1-GFP)1Jejo mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 80-95% of tumor cells express GFP
• GFP+ tumor cells but not GFP- are able to propagate tumors into immunocompromised hosts

neoplasm
• 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




Genotype
MGI:3624275
cx32
Allelic
Composition
Dync2h1lln/Dync2h1lln
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync2h1lln mutation (0 available); any Dync2h1 mutation (135 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:5558105
cx33
Allelic
Composition
Ptch1tm1Mps/Ptch1tm1Mps
Wdpcpcys40/Wdpcpcys40
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Wdpcpcys40 mutation (0 available); any Wdpcp mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• double mutants show better axial development, more robust growth and more normal head and heart development compared to mice homozygous for Ptch1tm1Mps alone




Genotype
MGI:4355990
cx34
Allelic
Composition
Kif7maki/Kif7maki
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif7maki mutation (0 available); any Kif7 mutation (26 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• compound mutants develop until E10.5, unlike Ptch1 single mutants that arrest at about E9.0

nervous system
• ventral cell types are expanded to encompass about 3/4 of the neural plate
• this expansion is less than that seen in Ptch1 single mutants

embryo
• ventral cell types are expanded to encompass about 3/4 of the neural plate
• this expansion is less than that seen in Ptch1 single mutants




Genotype
MGI:3617156
cx35
Allelic
Composition
Hhiptm1Amc/Hhip+
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhiptm1Amc mutation (1 available); any Hhip mutation (29 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Mt1-Ptch1)MT22Mps mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• or exencephaly present
• or spina bifida present
• ventral neuronal precursor population expanded considerably

craniofacial
• hyperplastic first branchial arch

embryo
• hyperplastic first branchial arch
• or exencephaly present




Genotype
MGI:3617157
cx36
Allelic
Composition
Hhiptm1Amc/Hhiptm1Amc
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hhiptm1Amc mutation (1 available); any Hhip mutation (29 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Mt1-Ptch1)MT22Mps mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• ventral neuronal precursor population expanded and dorsal precursors decreased
• 3X size of controls
• brain entirely open
• entral neuronal precursor population expanded and dorsal precursors decreased

craniofacial
• first branchial arch considerably enlarged

vision/eye

embryo
• first branchial arch considerably enlarged
• ventral neuronal precursor population expanded and dorsal precursors decreased
• 3X size of controls
• brain entirely open




Genotype
MGI:3617155
cx37
Allelic
Composition
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Mt1-Ptch1)MT22Mps/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
Tg(Mt1-Ptch1)MT22Mps mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• look normal at E10.5 except for a slight overgrowth in the diencephalon
• ventral neuronal precursor population 2X controls, other precursor populations normal

embryo




Genotype
MGI:3795856
cx38
Allelic
Composition
Gli2tm1Alj/Gli2tm1Alj
Ptch1tm1Mps/Ptch1tm1Mps
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli2tm1Alj mutation (0 available); any Gli2 mutation (147 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some embryos survive to E10.5; at E11.5, no embryos are recovered

nervous system
• at E10.5 dorsal brain has not closed
• embryos found at E10.5 exhibit exencephaly
• only small number of V3 interneurons remain in ventral midline of spinal cord at E9.5
• more motor neurons are generated than in Gli2-null mutants; motor neuron population expands into dorsal half of spinal cord
• number of V3 interneurons is reduced compared to Ptc-null embryos at E9.5





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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory