Phenotypes associated with this allele

• Allele Symbol: Gbf1^em1Xzha
• Allele Name: endonuclease-mediated mutation 1, Xianqin Zhang
• Allele ID: MGI:8161094
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gbf1^em1Xzha/Gbf1^em1Xzha	C57BL/6J-Gbf1^em1Xzha	MGI:8161632
ht2	Gbf1^em1Xzha/Gbf1^+	C57BL/6J-Gbf1^em1Xzha	MGI:8161634

Genotype
MGI:8161632

hm1

• Allelic Composition: Gbf1^em1Xzha/Gbf1^em1Xzha
• Genetic Background: C57BL/6J-Gbf1^em1Xzha

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

mortality/aging

prenatal lethality, complete penetrance ( J:359112 )

• homozygotes are embryonic lethal

Genotype
MGI:8161634

ht2

• Allelic Composition: Gbf1^em1Xzha/Gbf1⁺
• Genetic Background: C57BL/6J-Gbf1^em1Xzha

vision/eye

abnormal lens epithelium morphology ( J:359112 )

• TEM analysis shows an increased number of autophagosomes in lens epithelial cells

disorganized secondary lens fibers ( J:359112 )

• lens epithelial fiber cells show abnormal misalignment morphology, suggesting that lens microarchitecture is disrupted

cataract ( J:359112 )

• both 2- and 5-month-old mice exhibit cataract phenotypes by optical coherence tomography (OCT) and slit lamp exams; cataracts are more pronounced in 5-month-old mice

• at 1 month of age, 2 of 6 mice show opacification in the lens; by 2 months of age, nearly all mice (3 of 5 males and 9 of 9 females) exhibit cataract phenotypes versus none of wild-type controls

total cataract ( J:359112 )

• 2- and 5-month-old mice exhibit opacity in the lens nucleus and lens cortex

cellular

abnormal autophagosome formation ( J:359112 )

• TEM analysis shows an increased number of autophagosomes in lens epithelial cells

enhanced autophagy ( J:359112 )

• enhanced autophagy may be involved in the destruction of the lens microarchitecture

increased endoplasmic reticulum stress ( J:359112 )

• RT-PCR shows a significant increase in Hspa5 (heat shock protein 5, aka Grp78) mRNA levels in the lens, indicating activation of the unfolded protein response (UPR) in lens epithelial cells

homeostasis/metabolism

abnormal autophagosome formation ( J:359112 )

• TEM analysis shows an increased number of autophagosomes in lens epithelial cells

enhanced autophagy ( J:359112 )

• enhanced autophagy may be involved in the destruction of the lens microarchitecture