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Phenotypes Associated with This Genotype
Genotype
MGI:3800794
Allelic
Composition		 Efemp1tm1Eap/Efemp1+
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efemp1tm1Eap mutation (0 available); any Efemp1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal eye morphology ( J:129901 )
• heterozygotes develop deposits of material between Bruch's membrane and the retinal pigment epithelium by 18 months of age, although they are smaller in size than in homozygotes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Doyne honeycomb retinal dystrophy DOID:0060745 OMIM:126600
 J:129901

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