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Phenotypes Associated with This Genotype
Genotype
MGI:5544754
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 (11 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (22 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 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


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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last database update
03/30/2021
MGI 6.16
The Jackson Laboratory