Phenotypes associated with this allele

• Allele Symbol: Elovl2^em1Haml
• Allele Name: endonuclease-mediated mutation 1, Bruce Hamilton
• Allele ID: MGI:6782853
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elovl2^em1Haml/Elovl2^em1Haml	C57BL/6N-Elovl2^em1Haml	MGI:6782863

Genotype
MGI:6782863

hm1

• Allelic Composition: Elovl2^em1Haml/Elovl2^em1Haml
• Genetic Background: C57BL/6N-Elovl2^em1Haml

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

vision/eye

abnormal retina morphology ( J:284063 )

• significant number of autofluorescent spots at ages 6, 8 and 12 months; more pronounced in males

abnormal retina layer morphology ( J:284063 )

• sub-RPE (retinal pigment epithelium) drusenoid aggregates

abnormal rod electrophysiology ( J:284063 )

• reduced scotopic response amplitude at age 6 months

decreased visual acuity ( J:284063 )

• at age 6 months

homeostasis/metabolism

decreased unsaturated fatty acids level ( J:284063 )

• lower levels of C24:5 and C22:6 polyunsaturated fatty acids in liver and retina

increased unsaturated fatty acids level ( J:284063 )

• higher levels of C22:5 polyunsaturated fatty acids in liver and retina

reproductive system

reproductive system phenotype ( J:284063 )

N • fertile