Cpox^nct
Spontaneous Allele Detail

Summary

• Symbol: Cpox^nct
• Name: coproporphyrinogen oxidase; Nakano cataract
• MGI ID: MGI:1856966
• Synonyms: ca
• Gene: Cpox Location: Chr16:58490571-58500754 bp, + strand
• Alliance: Cpox^nct page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A spontaneous G to T transversion results in the amino acid substitution of arginine to leucine at position 380 (p.R380L). Enzymatic assay confirmed reduced Cpox activity in the liver. This allele is hypomorphic. (J:196645, J:259613)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cpox Mutation: 33 strains or lines available

Notes

The original mouse strain also contained a spontaneous A to G transition in Crybg3 that results in the amino acid substitution of aspartic acid for asparagine at position 744 (D744N). RT-PCR confirmed expression in lenses. While unlikely to be a pathogenic mutation, it remains unknown whether or not this mutation contributes to the phenotype.

References

• Original: J:155095 Nakano K, et al., Hereditary Cataract in Mice. Jap J Clin Opthalmol. 1960;14:194-200
• All: 13 reference(s)