RGD Reference Report - Ocular defects associated with a null mutation in the mouse arylamine N-acetyltransferase 2 gene. - Rat Genome Database

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Ocular defects associated with a null mutation in the mouse arylamine N-acetyltransferase 2 gene.

Authors: Wakefield, L  Long, H  Lack, N  Sim, E 
Citation: Wakefield L, etal., Mamm Genome. 2007 Apr;18(4):270-6. Epub 2007 May 9.
RGD ID: 8552648
Pubmed: PMID:17487534   (View Abstract at PubMed)
DOI: DOI:10.1007/s00335-007-9010-z   (Journal Full-text)

The xenobiotic metabolizing enzyme, mouse arylamine N-acetyltransferase type 2 (Nat2), is expressed during embryogenesis from the blastocyst stage and in the developing neural tube and eye. Mouse Nat2 is widely believed to have an endogenous role distinct from xenobiotic metabolism, and polymorphisms in the human ortholog have been implicated in susceptibility to spina bifida and orofacial clefting. The developmental role of Nat2 was investigated using transgenic Nat2 knockout/lacZ knockin (Nat2 (tm1Esim)) mice. The transgene was bred onto an A/J background and offspring were scored for developmental defects at weaning. After backcross generation eight, an ocular defect, ranging from cataract to microphthalmia and anophthalmia, was recorded among offspring of backcross and intercross pairs. Histologic analysis of cataract cases revealed a failure of the lens to separate from the cornea and plaques within the lens tissue. While Nat2 ( -/- ) mice have been described as overtly aphenotypic, the presence of a Nat2 null allele in one or both parents can result in ocular defects. These ocular phenotypes and their association with Nat2 genotype indicate that the Nat2 locus may be responsible for the previously described microphthalmic Cat4 phenotype and implicate the orthologous human NAT as a phenotypic modifier of microphthalmia and anophthalmia.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
eye disease  ISONat2 (Mus musculus)8552648; 8552648 RGD 
eye disease  IMP 8552648 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nat2  (N-acetyltransferase 2)

Genes (Mus musculus)
Nat2  (N-acetyltransferase 2 (arylamine N-acetyltransferase))

Genes (Homo sapiens)
NAT2  (N-acetyltransferase 2)

Objects referenced in this article
Gene NAT1 N-acetyltransferase 1 Homo sapiens

Additional Information