Gnat2^m1Erica
Spontaneous Allele Detail

Summary

• Symbol: Gnat2^m1Erica
• Name: G protein subunit alpha transducin 2; mutation 1, Erica L Fletcher
• MGI ID: MGI:6163746
• Synonyms: Gnat2^c.518AtoG
• Gene: Gnat2 Location: Chr3:108000105-108008748 bp, + strand Genetic Position: Chr3, 46.83 cM
• Alliance: Gnat2^m1Erica page

Mutation origin

• Strain of Origin: C.129P2(B6)-Cx3cr1^tm1Litt

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: An A-to-G point mutation at coding nucleotide 518 in exon 5, resulting in an aspartic acid to glycine amino acid change at position 173 (p.D173G), was identified in the Cx3cr1^tm1Litt line. Backcrossing with BALB/c mice segregated the two mutations. (J:215293)
• 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 Gnat2 Mutation: 35 strains or lines available

References

• Original: J:215293 Jobling AI, et al., A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. Invest Ophthalmol Vis Sci. 2013 May;54(5):3350-9
• All: 3 reference(s)