Oca2^p-18J
Spontaneous Allele Detail

Summary

• Symbol: Oca2^p-18J
• Name: oculocutaneous albinism II; pink-eyed dilution 18 Jackson
• MGI ID: MGI:4999725
• Gene: Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
• Alliance: Oca2^p-18J page

Oca2^p-18J/Oca2^p-18J mice compared with pigmentation of wild-type, non-agouti black sibling

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: B10.RIII-H2^r H2-T18^b/(71NS)SnJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This spontaneous mutation was proven allelic with Oca2^p by a failed complementation tests. A single C-to-A nucleotide transversion was identified at position 56,357,112 (GRCm38), changing alanine codon 649 to aspartic acid (p.A649D). (J:171807, J:207365, J:222308)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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 Oca2 Mutation: 70 strains or lines available

Notes

This allele has been discontinued as a mouse strain at The Jackson Laboratory but is available as DNA, JR 014100, B10.Cg-H2^r H2-T18^b Oca2^p-18J/GrsrJ

References

• Original: J:171807 Karst SY, et al., A new spontaneous mutation to pink-eyed dilution, Oca2p-18J. MGI Direct Data Submission. 2011
• All: 3 reference(s)