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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rp1tm1Eap
targeted mutation 1, Eric A Pierce
MGI:3652902
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rp1tm1Eap/Rp1tm1Eap involves: 129S6/SvEvTac MGI:3653029
hm2
Rp1tm1Eap/Rp1tm1Eap involves: 129S6/SvEvTac * C57BL/6 MGI:3653331
ht3
Rp1tm1Eap/Rp1+ involves: 129S6/SvEvTac * C57BL/6 MGI:3653271
ht4
Rp1tm1Jnz/Rp1tm1Eap involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:3653031


Genotype
MGI:3653029
hm1
Allelic
Composition
Rp1tm1Eap/Rp1tm1Eap
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rp1tm1Eap mutation (0 available); any Rp1 mutation (121 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• photoreceptor axonemes are significantly shorter than in wild-type or Rp1htm1Jnz mice
• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments

nervous system
• photoreceptor axonemes are significantly shorter than in wild-type or Rp1htm1Jnz mice
• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments




Genotype
MGI:3653331
hm2
Allelic
Composition
Rp1tm1Eap/Rp1tm1Eap
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rp1tm1Eap mutation (0 available); any Rp1 mutation (121 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• the ONL of the retina is 2-3 cell layers thinner than wild-type
• 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
• cone b-waves are reduced significantly at 4-8 months of age
• 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
• 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
Rp1tm1Eap/Rp1+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rp1tm1Eap mutation (0 available); any Rp1 mutation (121 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• cone b-waves are reduced significantly at 4-8 months of age
• 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
Rp1tm1Jnz/Rp1tm1Eap
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rp1tm1Eap mutation (0 available); any Rp1 mutation (121 available)
Rp1tm1Jnz mutation (0 available); any Rp1 mutation (121 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments

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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory