Phenotypes associated with this allele

• Allele Symbol: Heph^tm1.1Jdun
• Allele Name: targeted mutation 1.1, Joshua L Dunaief
• Allele ID: MGI:5490635
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0	involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac	MGI:5490772
cn2	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
cn3	Cp^tm1Hrs/Cp^tm1Hrs Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(Rho-cre)#Yzl/0	involves: 129X1/SvJ * C57BL/6NTac	MGI:5490774
cn4	Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(BEST1-cre)1Jdun/0	involves: C57BL/6 * C57BL/6NTac	MGI:5490769
cn5	Heph^tm1.1Jdun/Heph^tm1.1Jdun Tg(Rho-cre)#Yzl/0	involves: C57BL/6NTac	MGI:5490773

Genotype
MGI:5490772

cn1

• 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

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

vision/eye

increased retina iron level ( J:196540 )

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

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

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

increased retina iron level ( J:196540 )

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

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

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 )

♀

Genotype
MGI:5490775

cn2

• 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

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

Genotype
MGI:5490774

cn3

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:196540 )

♀N • mice exhibit normal retinal pigment epithelium iron levels

Genotype
MGI:5490769

cn4

• Allelic Composition: Heph^tm1.1Jdun/Heph^tm1.1Jdun; Tg(BEST1-cre)1Jdun/0
• Genetic Background: involves: C57BL/6 * C57BL/6NTac

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:196540 )

♀N • mice exhibit normal circulating and retinal pigment epithelium iron levels

Genotype
MGI:5490773

cn5

• Allelic Composition: Heph^tm1.1Jdun/Heph^tm1.1Jdun; Tg(Rho-cre)#Yzl/0
• Genetic Background: involves: C57BL/6NTac

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:196540 )

♀N • mice exhibit normal retinal pigment epithelium iron levels