Phenotypes Associated with This Genotype

Genotype
MGI:6885740

• Allelic Composition: Hsp90b1^tm1Zhli/Hsp90b1^tm1.1Zhli; Tg(Ddx4-cre)1Dcas/0
• Genetic Background: involves: 129S/SvEv * FVB

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

reproductive system

reproductive system phenotype ( J:168319 )

♂N • adult males show normal testis weight-to-body weight ratio relative to control males

abnormal sperm midpiece morphology ( J:168319 )

♂ • fluorescent HSPA5 (an ER chaperone) and TO-PRO-3 (DNA) staining revealed strong HSPA5 localization within the abnormal sperm head rather than at the level of the intermediate piece as observed in wild-type sperm

♂ • streptavidin-FITC (biotinylated proteins in mitochondria) and TO-PRO-3 (DNA) staining revealed a stronger streptavidin-FITC labeling concentrated at the abnormal sperm head, unlike in wild-type sperm

abnormal sperm head morphology ( J:168319 )

♂ • all cauda epididymal sperm show head distortions including abnormal heads with (i) a rather elongated head, ii) a rounded-globular head, and iii) an enlarged-deformed head

♂ • 86% of abnormal sperm heads include types (ii) and (iii)

♂ • normal hook-shaped sperm heads are never observed

abnormal acrosome morphology ( J:168319 )

♂ • fluorescent Lens culinaris agglutinin (LCA)-fluorescein isothiocyanate (FITC) (glycoconjugates) and TO-PRO-3 (DNA) staining revealed a diffuse and variable labeling of the acrosome, unlike in wild-type sperm

globozoospermia ( J:168319 )

♂ • ~40% of sperm heads are rounded-globular

enlarged sperm head ( J:168319 )

♂ • ~40% of sperm heads are enlarged and deformed

asthenozoospermia ( J:168319 )

♂ • cauda epididymal sperm are almost immobile

male infertility ( J:168319 )

♂ • adult males are infertile

♂ • however, mating behavior is normal

cellular

abnormal sperm midpiece morphology ( J:168319 )

♂ • fluorescent HSPA5 (an ER chaperone) and TO-PRO-3 (DNA) staining revealed strong HSPA5 localization within the abnormal sperm head rather than at the level of the intermediate piece as observed in wild-type sperm

♂ • streptavidin-FITC (biotinylated proteins in mitochondria) and TO-PRO-3 (DNA) staining revealed a stronger streptavidin-FITC labeling concentrated at the abnormal sperm head, unlike in wild-type sperm

abnormal sperm head morphology ( J:168319 )

♂ • normal hook-shaped sperm heads are never observed

♂ • all cauda epididymal sperm show head distortions including abnormal heads with (i) a rather elongated head, ii) a rounded-globular head, and iii) an enlarged-deformed head

♂ • 86% of abnormal sperm heads include types (ii) and (iii)

abnormal acrosome morphology ( J:168319 )

♂ • fluorescent Lens culinaris agglutinin (LCA)-fluorescein isothiocyanate (FITC) (glycoconjugates) and TO-PRO-3 (DNA) staining revealed a diffuse and variable labeling of the acrosome, unlike in wild-type sperm

globozoospermia ( J:168319 )

♂ • ~40% of sperm heads are rounded-globular

enlarged sperm head ( J:168319 )

♂ • ~40% of sperm heads are enlarged and deformed

asthenozoospermia ( J:168319 )

♂ • cauda epididymal sperm are almost immobile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
male infertility due to globozoospermia		DOID:0112312		J:168319