Human Disease and Mouse Model Detail

Human Disease

Term: Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B
OMIM ID: 242500

Synonyms

'Harlequin Fetus'; Harlequin Ichthyosis; HI; Ichthyosis Congenita, Harlequin Fetus Type

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...

Abca12

ABCA12

...both mouse and human orthologous genes.

Cst6	CST6
Prss8	PRSS8

...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
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Abca12^el12/Abca12^el12		involves: 129/Sv * C57BL/6	J:161652
Abca12^tm1Lex/Abca12^tm1Lex		involves: 129S/SvEvBrd * C57BL/6J	J:144062
Abca12^tm1Shzu/Abca12^tm1Shzu		B6.129S-Abca12^tm1Shzu	J:139048
Models with phenotypic similarity to human disease where etiologies are distinct.²
Cst6^ichq/Cst6^ichq		BALB/cJ	J:41426, J:90417
Prss8^tm1.1Hum/Prss8^tm1.2Hum Tg(KRT14-cre)1Ipc/0	3	involves: 129/Sv * C57BL/6 * FVB/N * SJL	J:100139

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.
³Conditionally 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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