Phenotypes associated with this allele

• Allele Symbol: Lss^em1Zhaol
• Allele Name: endonuclease-mediated mutation 1, Ling Zhao
• Allele ID: MGI:6849722
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lss^em1Zhaol/Lss^em1Zhaol	C57BL/6J-Lss^em1Zhaol	MGI:6849724

Genotype
MGI:6849724

hm1

• Allelic Composition: Lss^em1Zhaol/Lss^em1Zhaol
• Genetic Background: C57BL/6J-Lss^em1Zhaol

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

mortality/aging

neonatal lethality, complete penetrance ( J:316796 )

vision/eye

abnormal lens development ( J:316796 )

• epithelial cells at the lens posterior near the equator fail to exit the cell cycle unlike in control mice

• denucleation fails to complete at the organelle-free zone with retained highly condensed fiber cell nuclei

abnormal lens fiber morphology ( J:316796 )

• abnormal at E14.5, but not E13.5, with incomplete differentiation

• mice exhibit disrupted lens fiber cell polarity, debris and bulks of fibers in the lens, and severely disrupted epithelial-fiber interface associated with disrupted cholesterol biosynthesis pathways in the lens compared with control mice

disorganized secondary lens fibers ( J:316796 )

developmental cataract ( J:316796 )

• mild at E17.5, serious at E18.5

• severe opacity of eye lens at P0

• however, no cataracts are observed between E14.5 and E16.5

small lens ( J:316796 )

• with severe structural defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract		DOID:83	OMIM:601371 OMIM:PS116200	J:316796