Phenotypes associated with this allele

• Allele Symbol: Guca1a^tm1.1Hunt
• Allele Name: targeted mutation 1.1, David M Hunt
• Allele ID: MGI:4999776
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Guca1a^tm1.1Hunt/Guca1a^tm1.1Hunt	involves: 129	MGI:4999798
ht2	Guca1a^tm1.1Hunt/Guca1a^+	involves: 129	MGI:4999796

Genotype
MGI:4999798

hm1

• Allelic Composition: Guca1a^tm1.1Hunt/Guca1a^tm1.1Hunt
• Genetic Background: involves: 129

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Photoreceptor degeneration in Guca1a^tm1.1Hunt/Guca1a⁺ and Guca1a^tm1.1Hunt/Guca1a^tm1.1Hunt mice

vision/eye

decreased retina photoreceptor cell number ( J:171667 )

• at 5 and 12 months

• the rate of photoreceptor loss declines with age

decreased retina cone cell number ( J:171667 )

• at 5 months and progressive with age

short photoreceptor outer segment ( J:171667 )

• at 5 and 12 months

retina photoreceptor degeneration ( J:171667 )

• at 5 and 12 months

thin retina outer nuclear layer ( J:171667 )

• at 5 and 12 months

abnormal eye electrophysiology ( J:171667 )

• mice exhibit impaired rod recovery kinetics from bright flash compared with wild-type mice

abnormal cone electrophysiology ( J:171667 )

• 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

abnormal rod electrophysiology ( J:171667 )

• at 5 and 12 months

nervous system

decreased retina photoreceptor cell number ( J:171667 )

• at 5 and 12 months

• the rate of photoreceptor loss declines with age

decreased retina cone cell number ( J:171667 )

• at 5 months and progressive with age

short photoreceptor outer segment ( J:171667 )

• at 5 and 12 months

retina photoreceptor degeneration ( J:171667 )

• at 5 and 12 months

Genotype
MGI:4999796

ht2

• Allelic Composition: Guca1a^tm1.1Hunt/Guca1a⁺
• Genetic Background: involves: 129

Photoreceptor degeneration in Guca1a^tm1.1Hunt/Guca1a⁺ and Guca1a^tm1.1Hunt/Guca1a^tm1.1Hunt mice

vision/eye

decreased retina photoreceptor cell number ( J:171667 )

• at 5 and 12 months

• the rate of photoreceptor loss declines with age

decreased retina cone cell number ( J:171667 )

• at 5 months and progressive with age

short photoreceptor outer segment ( J:171667 )

• at 5 and 12 months

retina photoreceptor degeneration ( J:171667 )

• at 5 and 12 months

thin retina outer nuclear layer ( J:171667 )

• at 5 and 12 months

abnormal eye electrophysiology ( J:171667 )

• 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

abnormal cone electrophysiology ( J:171667 )

• 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

abnormal rod electrophysiology ( J:171667 )

• at 3 months and progressive

nervous system

decreased retina photoreceptor cell number ( J:171667 )

• at 5 and 12 months

• the rate of photoreceptor loss declines with age

decreased retina cone cell number ( J:171667 )

• at 5 months and progressive with age

short photoreceptor outer segment ( J:171667 )

• at 5 and 12 months

retina photoreceptor degeneration ( J:171667 )

• at 5 and 12 months