About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5544755
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 (11 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system

muscle

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


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 & Copyright Notice
Send questions and comments to User Support.
last database update
04/13/2021
MGI 6.16
The Jackson Laboratory