Human Disease and Mouse Model Detail

Human Disease

Term: Pachyonychia Congenita, Type 2; PC2
OMIM ID: 167210

Synonyms

Pachyonychia Congenita, Jackson-Lawler 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...

Krt17	KRT17
Krt6b	KRT6B

...both mouse and human orthologous genes.

Krt6a

KRT6A

...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
Krt17^tm1Cou/Krt17^tm1Cou Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou		involves: 129S2/SvPas * C57BL/6	J:95390

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

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