All Phenotypes Cp<tm1Hrs> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cp^tm1Hrs/Cp^tm1Hrs	involves: 129X1/SvJ * Black Swiss	MGI:3044689
cn2	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0	involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac	MGI:5490772
cn3	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0 Tg(Rho-cre)#Yzl/0	involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac	MGI:5490775
cn4	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(Rho-cre)#Yzl/0	involves: 129X1/SvJ * C57BL/6NTac	MGI:5490774
cx5	Cp^tm1Hrs/Cp^tm1Hrs Heph^sla/Heph^sla	involves: 129X1/SvJ	MGI:5490776
cx6	Cp^tm1Hrs/Cp^tm1Hrs Heph^sla/Y	involves: 129X1/SvJ * C57BL/6	MGI:3767200
cx7	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.2Jdun/Heph^tm1.2Jdun	involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac	MGI:5490771

Allelic Composition	Cp^tm1Hrs/Cp^tm1Hrs
Genetic Background	involves: 129X1/SvJ * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cp^tm1Hrs mutation (1 available); any Cp mutation (76 available)

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

Increase in storage iron content in Cp^tm1Hrs/Cp^tm1Hrs liver and spleen

homeostasis/metabolism

decreased circulating ceruloplasmin level ( J:57730 )

increased circulating ferritin level ( J:57730 )

• homozygotes showed elevated serum ferritin

abnormal liver copper level ( J:71807 )

• aceruloplasminemic mice showed normal copper gastrointestinal absorption, hepatic uptake, and biliary copper excretion

• the copper content of brain, heart, spleen, and kidney was normal, and homozygotes exhibited normal copper-zinc superoxide dismutase activity in these tissues

• notably, hepatic copper content was significantly elevated in aceruloplasminemic mice

abnormal iron homeostasis ( J:57730 )

• ferrokinetic studies showed normal rates of iron absorption, initial tissue iron distribution, and plasma iron turnover

• no differences were detected in cellular iron uptake; however, homozygotes displayed a significant impairment in hepatocyte iron efflux

abnormal iron level ( J:57730 )

• at 1 year of age, there was no evidence of diabetes, anemia, or neurological deficits despite iron accumulation in these sites

increased spleen iron level ( J:57730 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the spleen by 1 year of age

• the spleen displayed normal cellular architecture with abundant iron in reticuloendothelial cells

increased liver iron level ( J:57730 , J:71807 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the liver by 1 year of age (J:57730)

• the liver displayed normal cellular architecture with abundant iron in reticuloendothelial cells (J:57730)

• hepatic iron displayed a 3.5-fold increase in aceruloplasminemic mice due to loss of ferroxidase function (J:71807)

hematopoietic system

hematopoietic system phenotype ( J:57730 )

N	• the hemoglobin concentration remained normal relative to wild-type

increased spleen iron level ( J:57730 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the spleen by 1 year of age

• the spleen displayed normal cellular architecture with abundant iron in reticuloendothelial cells

liver/biliary system

abnormal liver copper level ( J:71807 )

• aceruloplasminemic mice showed normal copper gastrointestinal absorption, hepatic uptake, and biliary copper excretion

• the copper content of brain, heart, spleen, and kidney was normal, and homozygotes exhibited normal copper-zinc superoxide dismutase activity in these tissues

• notably, hepatic copper content was significantly elevated in aceruloplasminemic mice

increased liver iron level ( J:57730 , J:71807 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the liver by 1 year of age (J:57730)

• the liver displayed normal cellular architecture with abundant iron in reticuloendothelial cells (J:57730)

• hepatic iron displayed a 3.5-fold increase in aceruloplasminemic mice due to loss of ferroxidase function (J:71807)

immune system

increased spleen iron level ( J:57730 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the spleen by 1 year of age

• the spleen displayed normal cellular architecture with abundant iron in reticuloendothelial cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aceruloplasminemia		DOID:0050711	OMIM:604290	J:57730 , J:71807

Allelic Composition	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cp^tm1Hrs mutation (1 available); any Cp mutation (76 available)
Heph^tm1.1Jdun mutation (0 available); any Heph mutation (11 available)
Tg(BEST1-cre)1Jdun mutation (1 available)

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

vision/eye

abnormal retina pigment epithelium morphology ( J:196540 )

• retinal pigment epithelium (RPE) cells exhibit atrophy, hypertrophy and large vacuoles with cells extruded into the photoreceptor layer

• however, PRE cells are not auto-fluorescent

retina pigment epithelium atrophy ( J:196540 )

homeostasis/metabolism

abnormal iron level ( J:196540 )

• increased iron accumulation in the retinal pigment epithelium at 3 months of age

• increased transferrin receptor levels are decreased in the retinal pigment epithelium and neural retinas indicating increased labile iron levels

pigmentation

abnormal retina pigment epithelium morphology ( J:196540 )

• retinal pigment epithelium (RPE) cells exhibit atrophy, hypertrophy and large vacuoles with cells extruded into the photoreceptor layer

• however, PRE cells are not auto-fluorescent

retina pigment epithelium atrophy ( J:196540 )

Allelic Composition	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0 Tg(Rho-cre)#Yzl/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

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

homeostasis/metabolism

abnormal iron level ( J:196540 )

• iron levels in retinal pigment epithelium cells are not increased beyond levels in Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Itl/ Heph^tm1.1Itl Tg(BEST1-cre)1Jdun mice

abnormal protein level ( J:196540 )

• bipolar cells exhibit an increase in L-ferritin levels

Allelic Composition	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(Rho-cre)#Yzl/0
Genetic Background	involves: 129X1/SvJ * C57BL/6NTac

Find Mice

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:196540 )

N	• mice exhibit normal retinal pigment epithelium iron levels

Allelic Composition	Cp^tm1Hrs/Cp^tm1Hrs Heph^sla/Heph^sla
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cp^tm1Hrs mutation (1 available); any Cp mutation (76 available)
Heph^sla mutation (1 available); any Heph mutation (11 available)

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

homeostasis/metabolism

abnormal iron level ( J:196540 )

• increased iron accumulation in the retinal pigment epithelium

decreased circulating iron level ( J:196540 )

vision/eye

abnormal retina pigment epithelium morphology ( J:196540 )

• retinal pigment epithelium cells are auto-fluorescent

pigmentation

abnormal retina pigment epithelium morphology ( J:196540 )

• retinal pigment epithelium cells are auto-fluorescent

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

Accumulation of of iron in Cp^tm1Hrs/Cp^tm1Hrs Heph^sla/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

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
aceruloplasminemia	DOID:0050711	OMIM:604290	J:92620
age related macular degeneration 1	DOID:0110014	OMIM:603075	J:136925

Allelic Composition	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.2Jdun/Heph^tm1.2Jdun
Genetic Background	involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cp^tm1Hrs mutation (1 available); any Cp mutation (76 available)
Heph^tm1.2Jdun mutation (0 available); any Heph mutation (11 available)

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

hematopoietic system

anemia ( J:196540 )

homeostasis/metabolism

abnormal iron level ( J:196540 )

• increased iron accumulation in the neural retina, retinal pigment epithelium cells and the choroid

nervous system

neurodegeneration ( J:196540 )

• neurodegenerative symptoms as in Cp^tm1Hrs Heph^sla double homozygotes

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