Jak3^m1J
Spontaneous Allele Detail

Summary

• Symbol: Jak3^m1J
• Name: Janus kinase 3; mutation 1, Jackson
• MGI ID: MGI:6108882
• Gene: Jak3 Location: Chr8:72129027-72143221 bp, + strand Genetic Position: Chr8, 34.43 cM
• Alliance: Jak3^m1J page

Early-onset multifocal depigmented retinal lesions in Crb1^em2Boc/Crb1^em2Boc Jak3^m1J/Jak3^m1J mice on a C57BL/6J background (A, B) but normal retinas in Crb1^em2Boc/Crb1^em2Boc mice on a DBA/2J background (C,D).

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: B6;129-Crhr1^tm1Klee/J

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Undefined
• Mutation details: This spontaneous G to A transition in exon 24 results in a missense mutation, changing codon 1081 from CGG, arginine, to CAG, glutamine. This occurred in a gene sequence already containing the A to C transversion in codon 1032 common in at least 27 inbred strains, which causes an amino acid change from serine to arginine. (J:265859)
• Inheritance: Recessive

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: 8 strains available Cell Lines: 0 lines available
• Carrying any Jak3 Mutation: 84 strains or lines available

References

• Original: J:265859 Chang B, et al., Spontaneous Posterior Segment Vascular Disease Phenotype of a Mouse Model, rnv3, Is Dependent on the Crb1rd8 Allele. Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):5127-5139
• All: 5 reference(s)