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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Guca1atm1.1Hunt
targeted mutation 1.1, David M Hunt
MGI:4999776
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Guca1atm1.1Hunt/Guca1atm1.1Hunt involves: 129/Sv MGI:4999798
ht2
Guca1atm1.1Hunt/Guca1a+ involves: 129/Sv MGI:4999796


Genotype
MGI:4999798
hm1
Allelic
Composition
Guca1atm1.1Hunt/Guca1atm1.1Hunt
Genetic
Background
involves: 129/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Guca1atm1.1Hunt mutation (0 available); any Guca1a mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Photoreceptor degeneration in Guca1atm1.1Hunt/Guca1a+ and Guca1atm1.1Hunt/Guca1atm1.1Hunt mice

vision/eye
• at 5 and 12 months
• the rate of photoreceptor loss declines with age
• at 5 months and progressive with age
• at 5 and 12 months
• at 5 and 12 months
• at 5 and 12 months
• mice exhibit impaired rod recovery kinetics from bright flash compared with wild-type mice
• at 5 and 12 months, cone function is reduced with reduced b-wave amplitude compared to in wild-type mice
• 10 Hz and 15 Hz cone flicker electroretinogram is depressed compared to in wild-type mice
• loss of cone response progresses with age
• at 5 and 12 months

nervous system
• at 5 and 12 months
• the rate of photoreceptor loss declines with age
• at 5 months and progressive with age
• at 5 and 12 months
• at 5 and 12 months

Mouse Models of Human Disease
OMIM ID Ref(s)
Cone Dystrophy 3; COD3 602093 J:171667




Genotype
MGI:4999796
ht2
Allelic
Composition
Guca1atm1.1Hunt/Guca1a+
Genetic
Background
involves: 129/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Guca1atm1.1Hunt mutation (0 available); any Guca1a mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Photoreceptor degeneration in Guca1atm1.1Hunt/Guca1a+ and Guca1atm1.1Hunt/Guca1atm1.1Hunt mice

vision/eye
• at 5 and 12 months
• the rate of photoreceptor loss declines with age
• at 5 months and progressive with age
• at 5 and 12 months
• at 5 and 12 months
• at 5 and 12 months
• mice exhibit abnormal eye electrophysiology with cone dysfunction that is more severe than rod dysfunction
• mice exhibit impaired rod recovery kinetics from bright flash compared with wild-type mice
• at 3, 5, and 12 months, cone function is reduced with reduced b-wave amplitude compared to in wild-type mice
• 10 Hz and 15 Hz cone flicker electroretinogram is depressed compared to in wild-type mice
• loss of cone response progresses with age
• at 3 months and progressive

nervous system
• at 5 and 12 months
• the rate of photoreceptor loss declines with age
• at 5 months and progressive with age
• at 5 and 12 months
• at 5 and 12 months

Mouse Models of Human Disease
OMIM ID Ref(s)
Cone Dystrophy 3; COD3 602093 J:171667





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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory