Phenotypes associated with this allele

• Allele Symbol: Tbc1d20^em1Djsi
• Allele Name: endonuclease-mediated mutation 1, Duska J Sidjanin
• Allele ID: MGI:7593975
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbc1d20^em1Djsi/Tbc1d20^em1Djsi	involves: C57BL/6 * DBA/2	MGI:7593981

Genotype
MGI:7593981

hm1

• Allelic Composition: Tbc1d20^em1Djsi/Tbc1d20^em1Djsi
• Genetic Background: involves: C57BL/6 * DBA/2

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

vision/eye

abnormal eye muscle morphology ( J:315009 )

• eyes exhibit thickened pupillary sphincter muscle

abnormal lens morphology ( J:315009 )

• cortical and nuclear lens cells are severely shortened and disorganized

• however, lens epithelial cells appear normal

• although retinal rosetting is seen, the retina is laminated which suggests that rosetting may be caused by lens rupture and not by a retinal development defect

ruptured lens capsule ( J:315009 )

• lens capsule is ruptured and lenticular material is seen in the vitreal cavity and the anterior chamber

lens vacuoles ( J:315009 )

• severely disrupted vacuolated lenses with ruptured lens capsule and lenticular material in the vitreal cavity and some lenticular material in the anterior chamber

nuclear cataract ( J:315009 )

• nuclear cataracts are seen at P14 that by P28 progress to total cataracts characterized by vacuoles present throughout the entire lens

reproductive system

abnormal acrosome assembly ( J:315009 )

♂ • marker analysis indicates disrupted acrosomal formation

abnormal seminiferous tubule morphology ( J:315009 )

♂ • seminiferous tubules are disorganized

small testis ( J:315009 )

♂

male infertility ( J:315009 )

♂

cellular

abnormal cell morphology ( J:315009 )

• mouse embryo fibroblasts (MEFs) exhibit an accumulation of enlarged lipid droplets following oleic acid supplementation

• however, Golgi structures appear normal in MEFs

abnormal acrosome assembly ( J:315009 )

♂ • marker analysis indicates disrupted acrosomal formation

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:315009 )

♂ • seminiferous tubules are disorganized

small testis ( J:315009 )

♂

muscle

abnormal eye muscle morphology ( J:315009 )

• eyes exhibit thickened pupillary sphincter muscle

nervous system

nervous system phenotype ( J:315009 )

N • no gross morphological abnormalities are seen in the brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Warburg micro syndrome 4		DOID:0110719	OMIM:615663	J:315009