Phenotypes associated with this allele

• Allele Symbol: Elovl4^tm1Sie
• Allele Name: targeted mutation 1, Paul A Sieving
• Allele ID: MGI:3664793
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elovl4^tm1Sie/Elovl4^tm1Sie	involves: 129P2/OlaHsd * C57BL/6	MGI:3664796
ht2	Elovl4^tm1Sie/Elovl4^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3664797

Genotype
MGI:3664796

hm1

• Allelic Composition: Elovl4^tm1Sie/Elovl4^tm1Sie
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

prenatal lethality, complete penetrance ( J:112264 )

• none found at weaning or among dead pups genotyped within 2 or 3 days of birth suggesting that no homozygotes are born

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Stargardt disease	DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:112264

Genotype
MGI:3664797

ht2

• Allelic Composition: Elovl4^tm1Sie/Elovl4⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

reproductive system

abnormal fertility/fecundity ( J:112264 )

• breed poorly

• the line failed to propagate after a few backcrosses to C57BL/6

vision/eye

abnormal retina morphology ( J:112264 )

• only slight differences are detected compared to wild-type retinas

abnormal retina photoreceptor layer morphology ( J:112264 )

• scattered areas of apoptotic photoreceptor nuclei are seen in older mice

• however, no significant reduction in electroretinogram responses are detected at 17 - 19 months of age

short retina rod cell outer segment ( J:112264 )

• rod outer segments are 20 +/- 18% shorter than in wild-type and in older mice the rod outer segments are less tightly packed

• age-related changes in the rod outer segments (irregular gaps between stacks of discs, disoriented discs, and membranous whorls) are more extensive and severe compared to wild-type mice

nervous system

short retina rod cell outer segment ( J:112264 )

• rod outer segments are 20 +/- 18% shorter than in wild-type and in older mice the rod outer segments are less tightly packed

• age-related changes in the rod outer segments (irregular gaps between stacks of discs, disoriented discs, and membranous whorls) are more extensive and severe compared to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Stargardt disease	DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:112264