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Phenotypes Associated with This Genotype
Genotype
MGI:3767200
Allelic
Composition		 Cptm1Hrs/Cptm1Hrs
Hephsla/Y
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cptm1Hrs mutation (1 available); any Cp mutation (76 available)
Hephsla mutation (1 available); any Heph mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Accumulation of of iron in Cptm1Hrs/Cptm1Hrs Hephsla/Y retinal pigment epithelium and photoreceptors

homeostasis/metabolism
abnormal iron level ( J:92620 , J:136925 )
• retinas exhibit increased iron at 5-6 months of age, with highest levels in the RPE and photoreceptor outer segments (J:92620)
• levels of the cytosolic iron storage protein ferritin are increased in retinas (J:92620)
• iron accumulation in the retina and ciliary body (J:136925)

vision/eye
eye inflammation ( J:136925 )
• subretinal macrophage infiltration is seen by 9 months of age
abnormal ciliary epithelium morphology ( J:136925 )
• iron accumulation in the nonpigmented ciliary epithelium of the ciliary body at 7 months of age
• levels of ferritin light chain (L-ferritin) are increased in the nonpigmented ciliary epithelium of 7 month old mutants
abnormal retina morphology ( J:92620 , J:136925 )
• retinas exhibit increased iron at 5-6 months of age, with highest levels in the RPE and photoreceptor outer segments (J:92620)
• neurosensory retinas (without the RPE) have higher iron levels at 3 and 6 months of age than wild-type mice (J:136925)
• levels of transferrin receptor are undetectable in the retina except for a thin layer near the junction of photoreceptor inner and outer segments (J:136925)
• levels of isoprostane F2alpha-VI are increased in 6 month old retinas, indicating oxidative stress (J:136925)
retina neovascularization ( J:92620 , J:136925 )
• age dependent subretinal neovascularization (J:92620)
(J:136925)
retina photoreceptor degeneration ( J:92620 )
• local photoreceptor degeneration
abnormal retina pigment epithelium morphology ( J:92620 , J:136925 )
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (J:92620)
• iron accumulation in the retinal pigment epithelium (RPE) in 3 and 6 month old mutants (J:136925)
• accumulation of lipofuscin-like material in the retinal pigment epithelium with age (J:136925)
abnormal retina pigmentation ( J:92620 )
• retinas of mutants surviving 6-9 months exhibit focal areas of hypopigmentation in the midperipheral retina
retina pigment epithelium hyperplasia ( J:92620 , J:136925 )
• age dependent retinal epithelium hyperplasia (J:92620)
(J:136925)
increased susceptibility to age-related retinal degeneration ( J:136925 )
• age-dependent retinal degeneration with neovascularization that is first visible at 7 months of age; degeneration consists of RPE hyperplasia, RPE hypertrophy, and focal photoreceptor degeneration characterized by thinning of the ONL, inner segment vacuolization, and loss of outer segments
• by 12-13 months of age, hypertrophic RPE cells are seen in 90% of the total retinal length, loss of inner and outer segments, thinning of the ONL, and subretinal macrophage infiltration, focal areas of neovascularization
retina degeneration ( J:92620 )
• mutants surviving 6-9 months exhibit retinal degeneration
abnormal optic choroid morphology ( J:92620 )
• choroidal thinning
abnormal Bruch membrane morphology ( J:136925 )
• 9-month old mutants show activated complement in Bruch's membrane

cardiovascular system
retina neovascularization ( J:92620 , J:136925 )
• age dependent subretinal neovascularization (J:92620)
(J:136925)

nervous system
retina photoreceptor degeneration ( J:92620 )
• local photoreceptor degeneration

pigmentation
abnormal retina pigment epithelium morphology ( J:92620 , J:136925 )
• age dependent retinal epithelium hypertrophy, hyperplasia and necrosis (J:92620)
• iron accumulation in the retinal pigment epithelium (RPE) in 3 and 6 month old mutants (J:136925)
• accumulation of lipofuscin-like material in the retinal pigment epithelium with age (J:136925)
abnormal retina pigmentation ( J:92620 )
• retinas of mutants surviving 6-9 months exhibit focal areas of hypopigmentation in the midperipheral retina
retina pigment epithelium hyperplasia ( J:92620 , J:136925 )
• age dependent retinal epithelium hyperplasia (J:92620)
(J:136925)

immune system
eye inflammation ( J:136925 )
• subretinal macrophage infiltration is seen by 9 months of age

Contributing Projects:
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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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory