Phenotypes associated with this allele

• Allele Symbol: Golga2^tm1.1Baos
• Allele Name: targeted mutation 1.1, Shilai Bao
• Allele ID: MGI:6358612
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Golga2^tm1.1Baos/Golga2^tm1.2Baos Tg(Stra8-icre)1Reb/0	involves: 129 * C57BL/6 * FVB/NJ	MGI:6885893
cn2	Golga2^tm1.1Baos/Golga2^tm1.1Baos Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:6358689

Genotype
MGI:6885893

cn1

• Allelic Composition: Golga2^tm1.1Baos/Golga2^tm1.2Baos; Tg(Stra8-icre)1Reb/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/NJ

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

cellular

abnormal sperm mitochondrial sheath morphology ( J:273740 )

♂ • Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus instead of the flagellar midpiece, suggesting improper mitochondrial sheath assembly

absent sperm mitochondrial sheath ( J:273740 )

♂ • Mitotracker staining revealed complete absence of the mitochondrial sheath in the midpiece of sperm tails

abnormal sperm head morphology ( J:273740 )

♂ • Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the nucleus

globozoospermia ( J:273740 )

♂ • at 2 months of age, sperm heads in the cauda epididymides are round

absent acrosome ( J:273740 )

♂ • acrosome is absent, as shown by the absence of Afaf signal in most germ cells and of acrosome-specific protein ZP3R (aka SP56) in sperm

abnormal sperm nucleus morphology ( J:273740 )

♂

reproductive system

abnormal sperm mitochondrial sheath morphology ( J:273740 )

♂ • Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the deformed nucleus instead of the flagellar midpiece, suggesting improper mitochondrial sheath assembly

absent sperm mitochondrial sheath ( J:273740 )

♂ • Mitotracker staining revealed complete absence of the mitochondrial sheath in the midpiece of sperm tails

abnormal sperm head morphology ( J:273740 )

♂ • Mitotracker-positive mitochondria are abnormally found in the sperm head surrounding the nucleus

globozoospermia ( J:273740 )

♂ • at 2 months of age, sperm heads in the cauda epididymides are round

absent acrosome ( J:273740 )

♂ • acrosome is absent, as shown by the absence of Afaf signal in most germ cells and of acrosome-specific protein ZP3R (aka SP56) in sperm

abnormal sperm nucleus morphology ( J:273740 )

♂

abnormal spermiogenesis ( J:273740 )

♂ • defects in spermiogenesis are observed at 2 months of age

♂ • however, seminiferous tubule morphology is grossly normal

male infertility ( J:273740 )

♂

Genotype
MGI:6358689

cn2

• Allelic Composition: Golga2^tm1.1Baos/Golga2^tm1.1Baos; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:272184 )

N • unlike germline null mice, mice are viable

nervous system

increased neuron apoptosis ( J:272184 )

• elevated levels of apoptosis markers indicating increased Purkinje cell death

abnormal Purkinje cell morphology ( J:272184 )

• decrease in the amount of plasma membrane AMPA-type glutamate receptor subunits in the postsynaptic density fraction from the cerebellum

Purkinje cell degeneration ( J:272184 )

• degeneration is first seen in lobules X and IX at 3 weeks of age and then spreads to other regions with age

• however, no degeneration of neurons is seen in the molecular or granule layers of the cerebellum

abnormal Purkinje cell dendrite morphology ( J:272184 )

• decrease in dendrite size and arborization at P30

• dendrites at P30 are smaller than those at P9 indicating both failure to grow and atrophy

decreased Purkinje cell number ( J:272184 )

• loss of Purkinje cells beginning at 3 weeks of age

thin cerebellar molecular layer ( J:272184 )

• becomes thinner with age in correlation with loss of Purkinje cells

small cerebellum ( J:272184 )

• dramatically reduced in size

cellular

abnormal Golgi apparatus morphology ( J:272184 )

• compaction of the Golgi apparatus at P14 and P28 in Purkinje cells and a similar disruption is seen in granule cells in the cerebellum

• absence of Golgi outposts in primary dendrites of Purkinje cells at P8

• Golgi apparatus is located on the opposite side of the soma to the primary dendrite and the apparatus is dissociated from the centrosome indicating a loss of Golgi polarity in Purkinje cells at P14 and P28

abnormal Golgi cisterna morphology ( J:272184 )

• loss of cisternal stacking and cisternal length and an accumulation of vesicular profiles localized to the perinuclear region

increased neuron apoptosis ( J:272184 )

• elevated levels of apoptosis markers indicating increased Purkinje cell death

abnormal Golgi vesicle transport ( J:272184 )

• impaired secretory trafficking

• reduced soma to dendrite trafficking of GRIA2 in Purkinje cells

behavior/neurological

limb grasping ( J:272184 )

• limp reflex when lifted by the tail

ataxia ( J:272184 )

• ataxic gait

• coordination defects are mild in young mice and progressively worsen with age

impaired coordination ( J:272184 )

• slight reduction in time spent on a rotarod at 3 weeks of age and this reduction becomes more profound with age (8 and 12 weeks)

• require more time to cross balance beams of multiple sizes

growth/size/body

postnatal growth retardation ( J:272184 )

• growth retardation is less than that in germline null mice