Tg(Rho-GUCA1A*Y99C)L53Amd
Transgene Detail

Summary

• Symbol: Tg(Rho-GUCA1A*Y99C)L53Amd
• Name: transgene insertion L53, Alexander M Dizhoor
• MGI ID: MGI:4430086
• Synonyms: Y99C GCAP1
• Transgene: Tg(Rho-GUCA1A*Y99C)L53Amd Location: unknown
• Alliance: Tg(Rho-GUCA1A*Y99C)L53Amd page

Transgene origin

• Strain of Origin: C57BL/6 x DBA/2

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Rho-GUCA1A*Y99C)L53Amd expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  cattle	GUCA1A (282243)

• Mutation details: The mouse promoter drives rod and cone-specific expression of the bovine cDNA containing a mutation that results in an amino acid substitution of cysteine for tyrosine at position 99 (Y99C). This mutation is found in human patients with late-onset retinal dystrophy. Several lines were created (L52, L52H, L53, L36, L39, L128, and L52X). Line L53 exhibit a 3- to 4-fold in expression compared to endogenous levels. (J:157063)

Disease models

Expression

In Structures Affected by this Mutation:

3 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

References

• Original: J:157063 Olshevskaya EV, et al., The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice. J Neurosci. 2004 Jul 7;24(27):6078-85
• All: 4 reference(s)