About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5490772
Allelic
Composition		 Cptm1Hrs/Cptm1Hrs
Hephtm1.1Jdun/Hephtm1.1Jdun
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:
Cptm1Hrs mutation (1 available); any Cp mutation (76 available)
Hephtm1.1Jdun 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

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

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
03/18/2025
MGI 6.24 		The Jackson Laboratory