Phenotypes for Gja1 Plekha5 MGI:4366524 MGI Mouse

reproductive system phenotype ( J:122838 )

N	• male mutants display normal testicular descent and genital tract development relative to control littermates

decreased male germ cell number ( J:122838 )

• at P30, P60, P90, and P120, male mutants exhibit significantly reduced germ cell (spermatogonia) counts relative to control littermates

azoospermia ( J:122838 )

• no sperm are detected in the cauda epididymidis of mutant males

decreased spermatid number ( J:122838 )

• adult male mutants show loss and/or reduction of round or elongated spermatids

decreased spermatogonia number ( J:122838 )

• adult male mutants show a significant reduction in the mean number of spermatogonia per seminiferous tubule relative to control littermates

abnormal Sertoli cell morphology ( J:122838 )

• most mutant Sertoli cells display immature or aberrant features, including rounded nuclei, and absence of tubular lumina and cytoplasmic vacuoles

• no mitotic figures are observed

increased Sertoli cell number ( J:122838 )

• at P30, P60, P90, and P120, male mutants exhibit a significant increase in the mean number of Sertoli cells per seminiferous tubule relative to control littermates

small seminiferous tubules ( J:122838 )

• adult male mutants (P170) show smaller tubules with Sertoli cell (SC)-only syndrome and intratubular SC clusters

increased Leydig cell number ( J:122838 )

• a hyperplasia of interstitial Leydig cells is observed

small testis ( J:122838 )

• mutant testes are significantly smaller than those of control littermates

decreased testis weight ( J:122838 )

• adult male mutants (P60 to P120) show a drastic reduction in testis weight and relative testis weight (ratio between the weight of both testes to body weight) compared to control littermates

arrest of spermatogenesis ( J:122838 )

• 95% of mutant seminiferous tubules exhibit an arrest of spermatogenesis at the level of spermatogonia

• however, in 10 of 15 mutant males, ~5% of tubules exhibit qualitative normal spermatogenesis and few elongated spermatids

male infertility ( J:122838 )

• no pups are produced when mutant males are mated with wild-type females, despite normal sexual behavior and presence of vaginal plugs