Phenotypes associated with this allele

• Allele Symbol: Vps13b^tm1.2Ics
• Allele Name: targeted mutation 1.2, Mouse Clinical Institute
• Allele ID: MGI:6467991
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vps13b^tm1.2Ics/Vps13b^tm1.2Ics	involves: C57BL/6N	MGI:6468047

Genotype
MGI:6468047

hm1

• Allelic Composition: Vps13b^tm1.2Ics/Vps13b^tm1.2Ics
• Genetic Background: involves: C57BL/6N

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

immune system

eye inflammation ( J:296007 )

• leukocyte infiltration of vitreous humor in eyes with hypermature cataract

• astroglial cell infiltration around fibrotic areas of vitreous humor in eyes with hypermature cataract

• astroglial cell infiltration in retina inner and outer plexiform layer at site of retinal folds and edemas in eyes with hypermature cataract

• eye discharge at age 6 months

reproductive system

necrospermia ( J:296169 )

♂

oligozoospermia ( J:296169 )

♂ • 6.5x fewer spermatozoa in cauda epididymis

teratozoospermia ( J:296169 )

♂ • immotile and abnormally shaped (non-flagellated, multi-flagellated, round-headed) spermatozoa and non-flagellated cells and cellular debris in cauda epididymis

♂ • increased apoptosis necrosis of spermatozoa in cauda epididymis

abnormal acroplaxome morphology ( J:296169 )

♂ • intermediate filaments that form acroplaxome marginal ring absent

globozoospermia ( J:296169 )

♂ • round-headed spermatozoa in cauda epididymis

absent acrosome ( J:296169 )

♂ • no acrosomal vesicle

abnormal sperm nucleus morphology ( J:296169 )

♂ • not sickle shaped in spermatozoa in cauda epididymis

multinucleated giant male germ cells ( J:296169 )

♂ • frequent occurrence of highly vacuolated giant spermatids and bi-nucleated and multinucleated late spermatids

increased male germ cell apoptosis ( J:296169 )

♂ • of spermatozoa in cauda epididymis from stage 9 to 16

small testis ( J:296169 )

♂

male infertility ( J:296169 )

♂

cellular

cellular phenotype ( J:296169 )

♂N • normal basal plate and manchette formation in spermatids

necrospermia ( J:296169 )

♂

oligozoospermia ( J:296169 )

♂ • 6.5x fewer spermatozoa in cauda epididymis

teratozoospermia ( J:296169 )

♂ • immotile and abnormally shaped (non-flagellated, multi-flagellated, round-headed) spermatozoa and non-flagellated cells and cellular debris in cauda epididymis

♂ • increased apoptosis necrosis of spermatozoa in cauda epididymis

abnormal acroplaxome morphology ( J:296169 )

♂ • intermediate filaments that form acroplaxome marginal ring absent

globozoospermia ( J:296169 )

♂ • round-headed spermatozoa in cauda epididymis

absent acrosome ( J:296169 )

♂ • no acrosomal vesicle

abnormal sperm nucleus morphology ( J:296169 )

♂ • not sickle shaped in spermatozoa in cauda epididymis

multinucleated giant male germ cells ( J:296169 )

♂ • frequent occurrence of highly vacuolated giant spermatids and bi-nucleated and multinucleated late spermatids

abnormal Golgi apparatus morphology ( J:296169 )

♂ • randomly located within cytoplasm of stage 2-8 spermatids

abnormal Golgi stack morphology ( J:296169 )

♂ • randomly oriented (not aligned with nuclear dense lamina) and in closed instead of open conformation in stage 2-8 spermatids

abnormal actin cytoskeleton morphology ( J:296169 )

♂ • filaments mainly organized around plasma membrane instead of acrosome in stage 4-12 spermatids

increased male germ cell apoptosis ( J:296169 )

♂ • of spermatozoa in cauda epididymis from stage 9 to 16

abnormal Golgi vesicle transport ( J:296169 )

♂ • absence of large vesicles moving from trans-Golgi network to nuclear dense lamina to form acrosome vesicle: only small vesicles scattered around cytoplasm of cap stage spermatids

vision/eye

eye inflammation ( J:296007 )

• leukocyte infiltration of vitreous humor in eyes with hypermature cataract

• astroglial cell infiltration around fibrotic areas of vitreous humor in eyes with hypermature cataract

• astroglial cell infiltration in retina inner and outer plexiform layer at site of retinal folds and edemas in eyes with hypermature cataract

• eye discharge at age 6 months

cataract ( J:296007 )

• cataracts at age 1 month (6% of mice unilateral, 2% bilateral), 2 months (21% unilateral, 33% bilateral) and 3 months (15% unilateral, 77% bilateral)

• complete opacity in 37% of cataractous eyes at age 2 months, 87% at age 3 months

• epithelialmesenchymal transition (EMT)-associated fibrosis in localized areas of anterior segment of cataractous lenses

cortical cataract ( J:296007 )

• cataract formation initiated with appearance of large vacuoles in lens cortical area

mature cataract ( J:296007 )

• developing to hypermature with rupture of posterior or anterior lens envelope

abnormal retina morphology ( J:296007 )

• retinal folds and edemas

retina fold ( J:296007 )

abnormal vitreous body morphology ( J:296007 )

• presence of cells in vitreous humor

• fibrosis

vitreal fibroplasia ( J:296007 )

endocrine/exocrine glands

small testis ( J:296169 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract		DOID:83	OMIM:601371 OMIM:PS116200	J:296007
Cohen syndrome		DOID:0111590	OMIM:216550	J:296007