Phenotypes associated with this allele

• Allele Symbol: Rp1^tm2.1Eap
• Allele Name: targeted mutation 2.1, Eric A Pierce
• Allele ID: MGI:5463924
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rp1^tm2.1Eap/Rp1^tm2.1Eap	involves: 129S7/SvEvBrd	MGI:5463940
cx2	Rp1^tm2.1Eap/Rp1^tm2.1Eap Tg(Rp1)T1Eap/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:5463941
cx3	Rp1^tm2.1Eap/Rp1^tm2.1Eap Tg(Rp1)L2Eap/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:5463942

Genotype
MGI:5463940

hm1

• Allelic Composition: Rp1^tm2.1Eap/Rp1^tm2.1Eap
• Genetic Background: involves: 129S7/SvEvBrd

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

vision/eye

abnormal retina neuronal layer morphology ( J:191685 )

• small packets of enlarged discs replace normal organized stacks of discs at 10 days of age

abnormal photoreceptor outer segment morphology ( J:191685 )

• grossly abnormal at 12 months of age

thin retina outer nuclear layer ( J:191685 )

• 2-3 rows thinner than controls at 1 month of age

• only 3-4 rows of photoreceptor nuclei remain at 6 months of age

• complete loss at 12 months of age

abnormal eye electrophysiology ( J:191685 )

abnormal cone electrophysiology ( J:191685 )

• all cone functions reduced at 6 months of age

• no recordable ERG at 30 months

abnormal rod electrophysiology ( J:191685 )

• 50% reduction of rod a-waves in ERG at 1 month of age

• all rod functions reduced at 6 months of age

• no recordable ERG at 30 months

nervous system

abnormal photoreceptor outer segment morphology ( J:191685 )

• grossly abnormal at 12 months of age

Genotype
MGI:5463941

cx2

• Allelic Composition: Rp1^tm2.1Eap/Rp1^tm2.1Eap; Tg(Rp1)T1Eap/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

vision/eye

vision/eye phenotype ( J:191685 )

N • normal retinal structures preserved at 2 and 12 months of age

N • outer segments largely preserved

N • improved ERG

abnormal cone electrophysiology ( J:191685 )

• cone b-waves at 90% normal at 12 months

abnormal rod electrophysiology ( J:191685 )

• rod a-wave at 57% normal at 12 months

• rod b-wave at 71% normal at 12 months

Genotype
MGI:5463942

cx3

• Allelic Composition: Rp1^tm2.1Eap/Rp1^tm2.1Eap; Tg(Rp1)L2Eap/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

vision/eye

abnormal retina neuronal layer morphology ( J:191685 )

• mixed normal and disorganized discs

• some aberrant structures at 2 months of age

short photoreceptor outer segment ( J:191685 )

• shorter outer segments at 2 and 12 months of age

retina degeneration ( J:191685 )

• some retinal degeneration at 12 months of age

abnormal rod electrophysiology ( J:191685 )

• rod a-waves in ERG at 17% normal at 12 months of age

nervous system

short photoreceptor outer segment ( J:191685 )

• shorter outer segments at 2 and 12 months of age