About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory