Nyx^nob
Spontaneous Allele Detail

Summary

• Symbol: Nyx^nob
• Name: nyctalopin; no b wave
• MGI ID: MGI:2177945
• Synonyms: nob
• Gene: Nyx Location: ChrX:13332349-13355552 bp, + strand Genetic Position: ChrX, 8.37 cM
• Alliance: Nyx^nob page

Mutation origin

• Strain of Origin: BALB/cGr-nr

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The mutation in the nob mouse was identified as an 85 bp deletion in exon 3 of the gene. The deletion results in a frame shift that adds 170 unique amino acids to 188 amino acids from the amino terminus of the protein. This results in the loss of 288 amino acids fro the carboxyl terminus of the protein including seven leucine rich repeats. (J:81028)
• Inheritance: Recessive

Disease models

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 Nyx Mutation: 3 strains or lines available

Notes

Arose spontaneously on BALB/cGr-nr/nr (nervous) and then transferred to BALB/cByJ inbred strain (J:50824).

References

• Original: J:50824 Pardue MT, et al., A naturally occurring mouse model of X-linked congenital stationary night blindness. Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2443-9
• All: 20 reference(s)