ari
Spontaneous Allele Detail

Summary

• Symbol: ari
• Name: anterior retinal inversion
• MGI ID: MGI:2137663
• Synonyms: OVE401B
• Gene: ari Location: unknown Genetic Position: Chr16, Syntenic
• Alliance: ari page

Mutation origin

• Strain of Origin: FVB/N-Tg(FGF1)401Ove

Mutation description

• Allele Type: Spontaneous
• Mutation: Undefined
• Mutation details: The genetic position, based on an analysis of 656 backcross progeny, localized to a 2.3-Mb region spanning from 422 kb upstream to 1.8 Mb downstream of the Pvrl3 transcription unit. However, sequencing of Pvrl3 exons and splice junctions in mutants failed to detect an intragenic mutation. Never the less, the Pvrl3 expression domain in the prospective ciliary epithelia in homozygous mice was reduced to background levels but Pvrl3 expression in the embryonic and postnatal lens of homozygotes appeared similar to wild type. (J:180113)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any ari Mutation: 0 strains or lines available

References

• Original: J:180113 Lachke SA, et al., The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet. 2012 Feb;131(2):235-50
• All: 1 reference(s)