Phenotypes associated with this allele

• Allele Symbol: Rp1^tm1Eap
• Allele Name: targeted mutation 1, Eric A Pierce
• Allele ID: MGI:3652902
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rp1^tm1Eap/Rp1^tm1Eap	involves: 129S6/SvEvTac	MGI:3653029
hm2	Rp1^tm1Eap/Rp1^tm1Eap	involves: 129S6/SvEvTac * C57BL/6	MGI:3653331
ht3	Rp1^tm1Eap/Rp1^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3653271
ht4	Rp1^tm1Jnz/Rp1^tm1Eap	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3653031

Genotype
MGI:3653029

hm1

• Allelic Composition: Rp1^tm1Eap/Rp1^tm1Eap
• Genetic Background: involves: 129S6/SvEvTac

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

vision/eye

abnormal retina photoreceptor morphology ( J:109781 )

• photoreceptor axonemes are significantly shorter than in wild-type or Rp1h^tm1Jnz mice

abnormal photoreceptor outer segment morphology ( J:109781 )

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments

nervous system

abnormal retina photoreceptor morphology ( J:109781 )

• photoreceptor axonemes are significantly shorter than in wild-type or Rp1h^tm1Jnz mice

abnormal photoreceptor outer segment morphology ( J:109781 )

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments

Genotype
MGI:3653331

hm2

• Allelic Composition: Rp1^tm1Eap/Rp1^tm1Eap
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

vision/eye

abnormal photoreceptor outer segment morphology ( J:85754 )

• at 10 days of age, new evaginations at the base of the outer segments lose their perpendicular orientation quickly forming discs parallel not perpendicular to the long axis of the axoneme or closely aligned along the axoneme as in controls

• at 14 days of age, homozygotes lack organized arrangement of stacked discs in the photoreceptor outer segments; stacks of discs are obliquely or aligned to along the long axis of the photoreceptor cells rather than perpendicular

• discs are 2-3 times larger than in controls

• mice exhibit a progressive deterioration of photoreceptor cells

thin retina outer nuclear layer ( J:85754 )

• the ONL of the retina is 2-3 cell layers thinner than wild-type

increased susceptibility to age-related retinal degeneration ( J:85754 )

• at 10 months of age retinal degeneration is almost total with only 2 rows of photoreceptor nuclei remaining compared to heterozygotes and wild-type; rows contain both rods and cones that have abnormal outer segments

abnormal cone electrophysiology ( J:85754 )

• cone b-waves are reduced significantly at 4-8 months of age

abnormal rod electrophysiology ( J:85754 )

• saturating amplitude of the rod a-wave is reduced by 58% in 4-5 week old homozygotes and is practically absent at 4-8 months of age

nervous system

abnormal photoreceptor outer segment morphology ( J:85754 )

• at 10 days of age, new evaginations at the base of the outer segments lose their perpendicular orientation quickly forming discs parallel not perpendicular to the long axis of the axoneme or closely aligned along the axoneme as in controls

• at 14 days of age, homozygotes lack organized arrangement of stacked discs in the photoreceptor outer segments; stacks of discs are obliquely or aligned to along the long axis of the photoreceptor cells rather than perpendicular

• discs are 2-3 times larger than in controls

• mice exhibit a progressive deterioration of photoreceptor cells

Genotype
MGI:3653271

ht3

• Allelic Composition: Rp1^tm1Eap/Rp1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

vision/eye

abnormal cone electrophysiology ( J:85754 )

• cone b-waves are reduced significantly at 4-8 months of age

abnormal rod electrophysiology ( J:85754 )

• saturating amplitude of the rod a-wave is reduced by 58% in 4-5 week old homozygotes and is practically absent at 4-8 months of age

Genotype
MGI:3653031

ht4

• Allelic Composition: Rp1^tm1Jnz/Rp1^tm1Eap
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

vision/eye

abnormal photoreceptor outer segment morphology ( J:109781 )

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments

nervous system

abnormal photoreceptor outer segment morphology ( J:109781 )

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments