Phenotypes associated with this allele

• Allele Symbol: Ptch1^tm1Bjw
• Allele Name: targeted mutation 1, Brandon J Wainwright
• Allele ID: MGI:2675356
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptch1^tm1Bjw/Ptch1^tm1Bjw	involves: 129T2/SvEms * C57BL/6J	MGI:2675357
cn2	Ptch1^tm1Bjw/Ptch1^tm1Bjw	involves: 129T2/SvEms	MGI:5286073
cn3	Pgbd5^tm1.1Aken/Pgbd5^tm1.2Aken Ptch1^tm1Bjw/Ptch1^tm1Bjw Ptf1a^tm1.1(cre)Cvw/Ptf1a^+	involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW	MGI:7616728
cn4	Pgbd5^tm1.2Aken/Pgbd5^tm1.2Aken Ptch1^tm1Bjw/Ptch1^tm1Bjw Ptf1a^tm1.1(cre)Cvw/Ptf1a^+	involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW	MGI:7616725
cn5	Ptch1^tm1Bjw/Ptch1^tm1Bjw Tcf21^tm1(cre)Seq/Tcf21^+	involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ	MGI:5446894
cn6	Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(Atoh1-cre)1Bfri/0	involves: 129T2/SvEms * C57BL/6 * CBA	MGI:5286070
cn7	Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(Atoh1-cre/Esr1*)14Fsh/0	involves: 129T2/SvEms * FVB/N	MGI:5286071
cn8	Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(GFAP-cre)25Mes/0	involves: 129T2/SvEms * FVB/N	MGI:5286072
cn9	Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(KRT14-cre)8Brn/0	involves: 129T2/SvEms * FVB/N	MGI:5925369

Genotype
MGI:2675357

hm1

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw
• Genetic Background: involves: 129T2/SvEms * C57BL/6J

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

normal phenotype

no abnormal phenotype detected ( J:85040 )

• mice are fertile and show no abnormalities

Genotype
MGI:5286073

cn2

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw
• Genetic Background: involves: 129T2/SvEms

nervous system

increased neuronal precursor cell number ( J:139573 )

• cerebellar cells transfected with a cre-expressing retrovirus exhibit increased neurospheres compared with wild-type mice

Genotype
MGI:7616728

cn3

• Allelic Composition: Pgbd5^tm1.1Aken/Pgbd5^tm1.2Aken; Ptch1^tm1Bjw/Ptch1^tm1Bjw; Ptf1a^{tm1.1(cre)Cvw}/Ptf1a⁺
• Genetic Background: involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW

neoplasm

increased medulloblastoma incidence ( J:346387 )

• develop tumors with a similar latency to mice with one wild-type Pgbd5 allele, but most tumors retain an unrecombined floxed Pgbd5 allele

nervous system

increased medulloblastoma incidence ( J:346387 )

• develop tumors with a similar latency to mice with one wild-type Pgbd5 allele, but most tumors retain an unrecombined floxed Pgbd5 allele

Genotype
MGI:7616725

cn4

• Allelic Composition: Pgbd5^tm1.2Aken/Pgbd5^tm1.2Aken; Ptch1^tm1Bjw/Ptch1^tm1Bjw; Ptf1a^{tm1.1(cre)Cvw}/Ptf1a⁺
• Genetic Background: involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW

mortality/aging

increased tumor-free survival time ( J:346387 )

• increased survival compared to mutant mice wild-type for Pgbd5

neoplasm

decreased classified tumor incidence ( J:346387 )

• up to 70% of mice do not develop medulloblastomas at up to 1 year of life while 79% of mutant mice wild-type for Pgdb5 rapidly develop medulloblastomas

Genotype
MGI:5446894

cn5

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tcf21^tm1(cre)Seq/Tcf21⁺
• Genetic Background: involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ

mortality/aging

prenatal lethality ( J:189643 )

• embryos die at varying timepoints between E12.5 and birth

renal/urinary system

abnormal kidney morphology ( J:189643 )

• kidneys are comparable in size to controls, display numerous abnormal phenotypes

kidney cyst ( J:189643 )

• multiple cysts are observed, with some cysts containing glomeruli, with other cysts originating in the renal tubules

• cysts arise along entire nephron

abnormal kidney collecting duct morphology ( J:189643 )

• collecting ducts are dilated, distorted and winding, with increased cell proliferation in walls of cysts

abnormal kidney pelvis morphology ( J:189643 )

• pelvic area is dilated

neoplasm

increased tumor incidence ( J:189643 )

• lethality is suggested to result from an aggressive embryonic tumor with minimal renal invasion

growth/size/body

kidney cyst ( J:189643 )

• multiple cysts are observed, with some cysts containing glomeruli, with other cysts originating in the renal tubules

• cysts arise along entire nephron

Genotype
MGI:5286070

cn6

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tg(Atoh1-cre)1Bfri/0
• Genetic Background: involves: 129T2/SvEms * C57BL/6 * CBA

mortality/aging

premature death ( J:139573 )

• by 4 weeks, mice start becoming severely ill and must be sacrificed

• all mice die 10 or 11 weeks of age

nervous system

nervous system phenotype ( J:189258 )

N • neuronal migration to form the laminar architecture and foliation in the cerebellum are normal

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice

• however, cells are still able to exit the cell cycle

increased medulloblastoma incidence ( J:139573 )

abnormal cerebellum morphology ( J:139573 )

• some regions exhibit nodular structure unlike the discrete layers of cells in wild-type mice

abnormal cerebellum external granule cell layer morphology ( J:139573 )

• thickened at P1 to P8 and at P21

• the external granule cell layer persists at P21 unlike in wild-type mice

enlarged cerebellum ( J:139573 )

• at P21 with cerebellar hyperplasia

increased neuronal precursor cell number ( J:189258 )

• increased granule neuron precursors cells at P5

neoplasm

increased medulloblastoma incidence ( J:139573 )

cellular

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice

• however, cells are still able to exit the cell cycle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:139573

Genotype
MGI:5286071

cn7

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tg(Atoh1-cre/Esr1*)14Fsh/0
• Genetic Background: involves: 129T2/SvEms * FVB/N

mortality/aging

premature death ( J:139573 )

• by 10 weeks, mice start becoming severely ill and must be sacrificed

• all mice die by 29 weeks of age

nervous system

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors in mice treated with tamoxifen at P4 exhibit increased proliferation unlike in wild-type mice

increased medulloblastoma incidence ( J:139573 )

• in all mice treated with tamoxifen at E14.5 with a median age of tumor onset at 10 weeks

• in all mice treated with tamoxifen at P4 with a median age of tumor onset at 13 weeks

• in all mice treated with tamoxifen at P8 with a median age of tumor onset at 15.5 weeks

• in 29% of mice treated with tamoxifen at P10 with a median age of tumor onset at 19 weeks

• however, mice treated with tamoxifen at E10.5, at P12, or later than P12 do not develop tumors

abnormal cerebellum external granule cell layer morphology ( J:139573 )

• at P21 in mice treated with tamoxifen at P4

enlarged cerebellum ( J:139573 )

• cerebellar hyperplasia at 10 weeks of age

neoplasm

increased medulloblastoma incidence ( J:139573 )

• in all mice treated with tamoxifen at E14.5 with a median age of tumor onset at 10 weeks

• in all mice treated with tamoxifen at P4 with a median age of tumor onset at 13 weeks

• in all mice treated with tamoxifen at P8 with a median age of tumor onset at 15.5 weeks

• in 29% of mice treated with tamoxifen at P10 with a median age of tumor onset at 19 weeks

• however, mice treated with tamoxifen at E10.5, at P12, or later than P12 do not develop tumors

cellular

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors in mice treated with tamoxifen at P4 exhibit increased proliferation unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:139573

Genotype
MGI:5286072

cn8

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: 129T2/SvEms * FVB/N

mortality/aging

premature death ( J:139573 )

• by 4 weeks, mice become severely ill and must be sacrificed

nervous system

increased medulloblastoma incidence ( J:139573 )

abnormal cerebellum external granule cell layer morphology ( J:139573 )

• expanded at E16.5

• thick and disorganized, at birth

abnormal rhombic lip morphology ( J:139573 )

• rhombic lip expansion at E16.5

increased neuronal precursor cell number ( J:139573 )

• cerebellar cells exhibit increased neurospheres compared with wild-type mice

neoplasm

increased medulloblastoma incidence ( J:139573 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:139573

Genotype
MGI:5925369

cn9

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tg(KRT14-cre)8Brn/0
• Genetic Background: involves: 129T2/SvEms * FVB/N

endocrine/exocrine glands

thymus hypoplasia ( J:231264 )

growth/size/body

postnatal growth retardation ( J:231264 )

• severe growth deficiency such that mice do not progress beyond 49% of control weight, with differences first seen around P19

hematopoietic system

thymus hypoplasia ( J:231264 )

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:231264 )

• serum Igf1 levels are reduced

• however, serum growth hormone levels are normal

immune system

thymus hypoplasia ( J:231264 )

integument

skin lesions ( J:231264 )

• hyperproliferative lesions first develop in the skin around P19

increased basal cell carcinoma incidence ( J:231264 )

• mice show rapid development basal cell carcinoma

neoplasm

increased basal cell carcinoma incidence ( J:231264 )

• mice show rapid development basal cell carcinoma

reproductive system

infertility ( J:231264 )

• mice do not breed successfully

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
basal cell carcinoma		DOID:2513		J:231264