About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptch1tm1Bjw
targeted mutation 1, Brandon J Wainwright
MGI:2675356
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptch1tm1Bjw/Ptch1tm1Bjw involves: 129T2/SvEms * C57BL/6J MGI:2675357
cn2
Ptch1tm1Bjw/Ptch1tm1Bjw involves: 129T2/SvEms MGI:5286073
cn3
Pgbd5tm1.1Aken/Pgbd5tm1.2Aken
Ptch1tm1Bjw/Ptch1tm1Bjw
Ptf1atm1.1(cre)Cvw/Ptf1a+
involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW MGI:7616728
cn4
Pgbd5tm1.2Aken/Pgbd5tm1.2Aken
Ptch1tm1Bjw/Ptch1tm1Bjw
Ptf1atm1.1(cre)Cvw/Ptf1a+
involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW MGI:7616725
cn5
Ptch1tm1Bjw/Ptch1tm1Bjw
Tcf21tm1(cre)Seq/Tcf21+
involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ MGI:5446894
cn6
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(Atoh1-cre)1Bfri/0
involves: 129T2/SvEms * C57BL/6 * CBA MGI:5286070
cn7
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(Atoh1-cre/Esr1*)14Fsh/0
involves: 129T2/SvEms * FVB/N MGI:5286071
cn8
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(GFAP-cre)25Mes/0
involves: 129T2/SvEms * FVB/N MGI:5286072
cn9
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(KRT14-cre)8Brn/0
involves: 129T2/SvEms * FVB/N MGI:5925369


Genotype
MGI:2675357
hm1
Allelic
Composition
Ptch1tm1Bjw/Ptch1tm1Bjw
Genetic
Background
involves: 129T2/SvEms * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice are fertile and show no abnormalities




Genotype
MGI:5286073
cn2
Allelic
Composition
Ptch1tm1Bjw/Ptch1tm1Bjw
Genetic
Background
involves: 129T2/SvEms
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• cerebellar cells transfected with a cre-expressing retrovirus exhibit increased neurospheres compared with wild-type mice




Genotype
MGI:7616728
cn3
Allelic
Composition
Pgbd5tm1.1Aken/Pgbd5tm1.2Aken
Ptch1tm1Bjw/Ptch1tm1Bjw
Ptf1atm1.1(cre)Cvw/Ptf1a+
Genetic
Background
involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pgbd5tm1.1Aken mutation (1 available); any Pgbd5 mutation (33 available)
Pgbd5tm1.2Aken mutation (0 available); any Pgbd5 mutation (33 available)
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Ptf1atm1.1(cre)Cvw mutation (1 available); any Ptf1a mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 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
• 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
Pgbd5tm1.2Aken/Pgbd5tm1.2Aken
Ptch1tm1Bjw/Ptch1tm1Bjw
Ptf1atm1.1(cre)Cvw/Ptf1a+
Genetic
Background
involves: 129 * C57BL/6J * C57BL/6NTac * FVB/N * SW
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pgbd5tm1.2Aken mutation (0 available); any Pgbd5 mutation (33 available)
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Ptf1atm1.1(cre)Cvw mutation (1 available); any Ptf1a mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• increased survival compared to mutant mice wild-type for Pgbd5

neoplasm
• 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
Ptch1tm1Bjw/Ptch1tm1Bjw
Tcf21tm1(cre)Seq/Tcf21+
Genetic
Background
involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Tcf21tm1(cre)Seq mutation (0 available); any Tcf21 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos die at varying timepoints between E12.5 and birth

renal/urinary system
• kidneys are comparable in size to controls, display numerous abnormal phenotypes
• multiple cysts are observed, with some cysts containing glomeruli, with other cysts originating in the renal tubules
• cysts arise along entire nephron
• collecting ducts are dilated, distorted and winding, with increased cell proliferation in walls of cysts
• pelvic area is dilated

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

growth/size/body
• 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
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(Atoh1-cre)1Bfri/0
Genetic
Background
involves: 129T2/SvEms * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by 4 weeks, mice start becoming severely ill and must be sacrificed
• all mice die 10 or 11 weeks of age

nervous system
N
• neuronal migration to form the laminar architecture and foliation in the cerebellum are normal
• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice
• however, cells are still able to exit the cell cycle
• some regions exhibit nodular structure unlike the discrete layers of cells in wild-type mice
• thickened at P1 to P8 and at P21
• the external granule cell layer persists at P21 unlike in wild-type mice
• at P21 with cerebellar hyperplasia
• increased granule neuron precursors cells at P5

neoplasm

cellular
• 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
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(Atoh1-cre/Esr1*)14Fsh/0
Genetic
Background
involves: 129T2/SvEms * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Tg(Atoh1-cre/Esr1*)14Fsh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by 10 weeks, mice start becoming severely ill and must be sacrificed
• all mice die by 29 weeks of age

nervous system
• granule neuron precursors in mice treated with tamoxifen at P4 exhibit increased proliferation unlike in wild-type mice
• 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
• at P21 in mice treated with tamoxifen at P4
• cerebellar hyperplasia at 10 weeks of age

neoplasm
• 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
• 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
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(GFAP-cre)25Mes/0
Genetic
Background
involves: 129T2/SvEms * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Tg(GFAP-cre)25Mes mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by 4 weeks, mice become severely ill and must be sacrificed

nervous system
• expanded at E16.5
• thick and disorganized, at birth
• rhombic lip expansion at E16.5
• cerebellar cells exhibit increased neurospheres compared with wild-type mice

neoplasm

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
Ptch1tm1Bjw/Ptch1tm1Bjw
Tg(KRT14-cre)8Brn/0
Genetic
Background
involves: 129T2/SvEms * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Tg(KRT14-cre)8Brn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands

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

hematopoietic system

homeostasis/metabolism
• serum Igf1 levels are reduced
• however, serum growth hormone levels are normal

immune system

integument
• hyperproliferative lesions first develop in the skin around P19
• mice show rapid development basal cell carcinoma

neoplasm
• mice show rapid development basal cell carcinoma

reproductive system
• mice do not breed successfully

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





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/23/2024
MGI 6.23
The Jackson Laboratory