Human Disease and Mouse Model Detail

Human Disease

Term: Hydrocephalus, Nonsyndromic, Autosomal Recessive; HYC
OMIM ID: 236600

Synonyms

Hydrocephaly; Ventriculomegaly

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...

4930444A02Rik	SGK196
Add1	ADD1
Ak7	AK7
Ak8	AK8
Celsr2	CELSR2
Dpcd	DPCD
E2f5	E2F5
Fzd3	FZD3
hhy	none identified
Hydin	HYDIN
Kif27	KIF27
Mboat7	MBOAT7
Nme5	NME5
Nme7	NME7
Stk36	STK36
Ulk4	ULK4

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
4930444A02Rik^{Gt(OST243203)Lex}/4930444A02Rik^{Gt(OST243203)Lex}		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Add1^tm1Llp/Add1^tm1Llp		involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6J	J:138919
Ak7^{Gt(OST434404)Lex}/Ak7^{Gt(OST434404)Lex}		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Ak8^{Gt(OST16378)Lex}/Ak8^{Gt(OST16378)Lex}		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Celsr2^tm1Lex/Celsr2^tm1Lex		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Dpcd/Poll^{Gt(OST280355)Lex}/Dpcd/Poll^{Gt(OST280355)Lex}		involves: 129S5/SvEvBrd * C57BL/6Brd-Tyr^c-Brd	J:185566
E2f5^tm1Dli/E2f5^tm1Dli		either: (involves: 129S1/Sv * BALB/c) or (involves: 129S1/Sv * C57BL/6)	J:47283
Fzd3^tm1(FZD3)Lex/Fzd3^tm1(FZD3)Lex		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
hhy/hhy		involves: BALB/cHeA * STS/A	J:93608
Hydin^hy3/Hydin^hy3		involves: CBA	J:5426
Kif27^{Gt(OST441915)Lex}/Kif27^{Gt(OST441915)Lex}		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Mboat7^tm1Lex/Mboat7^tm1Lex		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Nme5^tm1Lex/Nme5^tm1Lex		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Nme7^{Gt(OST31116)Lex}/Nme7^{Gt(OST31116)Lex}		involves: 129S5/SvEvBrd * C57BL/6Brd-Tyr^c-Brd	J:185566
Stk36^tm1Lex/Stk36^tm1Lex		involves: 129S5/SvEvBrd * C57BL/6J	J:185566
Ulk4^tm1Lex/Ulk4^tm1Lex		involves: 129S5/SvEvBrd * C57BL/6J	J:185566

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.

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