Human Disease and Mouse Model Detail

Human Disease

Term: Medulloblastoma; MDB
OMIM ID: 155255

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Brca2	BRCA2
Ptch2	PTCH2
Sufu	SUFU

...both mouse and human orthologous genes.

Cdkn2c	CDKN2C
Lig4	LIG4
Olig2	OLIG2
Ptch1	PTCH1
Rag1	RAG1
Rb1	RB1
Tlx3	TLX3
Trp53	TP53
Xrcc4	XRCC4
Xrcc5	XRCC5

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(Atoh1-GFP)1Jejo		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(GFAP-tTA)67Pop
Tg(Neurod2-Smo*A1)199Jols
Tg(Neurod2-Smo*A2)#Jols
Tg(tetO-Ifng)184Pop
Tg(tetO-TAg,CMV-rtTA)123Yihu

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Brca2^tm1Brn/Brca2^tm1Brn Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	4	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL	J:144617
Brca2^tm1Brn/Brca2^tm1Brn Trp53^tm1Tyj/Trp53⁺ Tg(Nes-cre)1Kln/0	4	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL	J:144617
Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2^tm1Pmc		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:112118
Ptch1^tm1Mps/Ptch1⁺ Ptch2^tm1Pmc/Ptch2⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:112118
Sufu^Gt(XB699)Byg/Sufu⁺ Trp53^tm1Tyj/Trp53^tm1Tyj		involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	J:173443
Models with phenotypic similarity to human disease where etiologies are distinct.²
Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Ptch1^tm1Mps/Ptch1⁺		involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	J:102702
Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Trp53^tm1Brn/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	4	involves: 129P2/OlaHsd * 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	J:102702
Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Trp53^tm1Tyj/Trp53^tm1Tyj		involves: 129S1/Sv * 129S2/SvPas * C57BL/6	J:102702
Cdkn2c^tm1Bbd/Cdkn2c⁺ Trp53^tm1Tyj/Trp53^tm1Tyj		involves: 129S1/Sv * 129S2/SvPas * C57BL/6	J:102702
Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc} Tlx3^tm1(cre)Qima/Tlx3⁺	4	involves: 129X1/SvJ	J:139574
Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc} Tg(Atoh1-cre/Esr1*)14Fsh/0	4	involves: 129X1/SvJ * FVB/N	J:139574
Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc} Olig2^{tm2(TVA,cre)Rth}/Olig2⁺		involves: 129 * 129X1/SvJ	J:139574
Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc} Tg(GFAP-cre)25Mes/0	4	involves: 129X1/SvJ * FVB/N	J:139574
Lig4^tm1Icrf/Lig4^tm1Icrf Trp53^tm1Tyj/Trp53^tm1Tyj		either: (involves: 129P2/OlaHsd * 129S2/SvPas) or (involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ)	J:173443
Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(GFAP-cre)25Mes/0	4	involves: 129T2/SvEms * FVB/N	J:139573
Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(Atoh1-cre)1Bfri/0	4	involves: 129T2/SvEms * C57BL/6 * CBA	J:139573
Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(Atoh1-cre/Esr1*)14Fsh/0	4	involves: 129T2/SvEms * FVB/N	J:139573
Ptch1^tm1Mps/Ptch1⁺		involves: 129S1/Sv * 129X1/SvJ	J:144811
Ptch1^tm1Mps/Ptch1⁺ Tg(Atoh1-GFP)1Jejo/?		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	J:144811
Ptch1^tm1Mps/Ptch1⁺ Trp53^tm1Tyj/Trp53^tm1Tyj		involves: 129 * 129S2/SvPas * C57BL/6	J:67452
Ptch1^tm1Zim/Ptch1⁺		involves: 129/Sv * CD-1	J:79666
Rag1^tm1Mom/Rag1^tm1Mom Trp53^tm1Brd/Trp53^tm1Brd Xrcc5^tm1Dbr/Xrcc5^tm1Dbr		involves: 129S7/SvEvBrd * C57BL	J:141515
Rb1^tm2Brn/Rb1^tm2Brn Trp53^tm1Brn/Trp53^tm1Brn Tg(Gfap-cre)2Brn/0	4	involves: 129P2/OlaHsd * FVB/N	J:61961
Rb1^tm2Brn/Rb1^tm2Brn Trp53^tm1Brd/Trp53^tm1Brd Tg(Gfap-cre)2Brn/0	4	involves: 129 * 129S7/SvEvBrd * FVB/N	J:61961
Trp53^tm1Brd/Trp53^tm1Brd Xrcc4^tm2.1Fwa/Xrcc4^tm2Fwa Tg(Nes-cre)1Kln/0	4	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL	J:109585
Models involving transgenes or other mutation types.³
Ptch1^tm1Mps/Ptch1⁺ Tg(Atoh1-GFP)1Jejo/?		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	J:144811
Tg(GFAP-tTA)67Pop/0 Tg(tetO-Ifng)184Pop/0		B6.Cg-Tg(GFAP-tTA)67Pop Tg(tetO-Ifng)184Pop	J:94092
Tg(GFAP-tTA)67Pop/0 Tg(tetO-Ifng)184Pop/0		involves: 129S/SvEv * C57BL/6 * DBA/2	J:94092
Tg(Neurod2-Smo*A1)199Jols/0		C57BL/6-Tg(Neurod2-Smo*A1)199Jols	J:93861
Tg(Neurod2-SmoA1)199Jols/Tg(Neurod2-SmoA1)199Jols		C57BL/6-Tg(Neurod2-Smo*A1)199Jols	J:189258
Tg(Neurod2-Smo*A2)#Jols/0		C57BL/6-Tg(Neurod2-Smo*A2)#Jols	J:189258
Tg(tetO-TAg,CMV-rtTA)123Yihu/0		involves: FVB/N	J:141623

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
³Models involving transgenes or other mutation types may also appear in other sections of the table.
⁴Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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