All Phenotypes Ccdc38<em1Cya> MGI Mouse

reproductive system phenotype ( J:325559 )

N	• 2-mo-old female mice are fertile • 2-mo-old male mice show normal testis size and testis/body weight ratio relative to control males

asthenozoospermia ( J:325559 )

• % of motile spermatozoa is severely reduced

abnormal seminiferous tubule morphology ( J:325559 )

• H&E staining showed shortened tails and tailless spermatids in the seminiferous tubules

abnormal testis physiology ( J:325559 )

• IFT88, CFAP53 and IFT20 protein levels are all significantly reduced in testis lysates

• ODF2, but not ODF1, protein levels are significantly decreased in testicular extracts, and ODF2 transport is impaired during flagellum biogenesis

abnormal spermatogenesis ( J:325559 )

• PAS staining of testis sections showed abnormal elongated spermatids at stages X-XI

oligozoospermia ( J:325559 )

• total cauda epididymal sperm count is significantly lower than that in control males

teratozoospermia ( J:325559 )

• caudal epididymal spermatozoa show morphological anomalies, including abnormal nuclei and a "multiple morphological abnormalities of the flagella" (MMAF)-like phenotype of either a short tail (type 1), disordered filaments (type 2), impaired spermatozoon head (type 3), curly tail (type 4) and tailless (type 5)

abnormal sperm flagellum morphology ( J:325559 )

• sperm flagellum biogenesis defects are observed in the testes

abnormal outer dense fiber morphology ( J:325559 )

• sperm tails show loss of outer dense fibers (ODFs)

abnormal sperm axoneme morphology ( J:325559 )

• sperm tails show disorganization of axonemal microtubules and tail accessory structures

thin sperm flagellum ( J:325559 )

• sperm with a normal head and a thin tail are observed (type 2)

abnormal sperm mitochondrial sheath morphology ( J:325559 )

abnormal sperm fibrous sheath morphology ( J:325559 )

absent sperm flagellum ( J:325559 )

• tailless sperm are observed (type 5)

coiled sperm flagellum ( J:325559 )

• sperm with an abnormal head and a curly tail are observed (type 4)

short sperm flagellum ( J:325559 )

• sperm with an abnormal head and a short tail are observed (type 1)

abnormal sperm head morphology ( J:325559 )

• sperm with an abnormal head and either a short tail (type 1), a normal tail (type 3) or a curly tail (type 4) are observed

abnormal sperm nucleus morphology ( J:325559 )

• PAS staining of testis sections showed abnormal sperm nuclear shape

abnormal spermatid morphology ( J:325559 )

• abnormal spermatid shapes are found starting at step 10

• elongated spermatids show abnormal head shapes at stage X-XI

• spermatids exhibit short and curly flagella from stages IV-V

• elongating spermatids show disorganized ODFs, fibrous sheath (FS), mitochondrial sheath and axoneme

ectopic manchette ( J:325559 )

• TEM showed that manchettes of elongating spermatids (steps 9-11) are ectopically placed

elongated manchette ( J:325559 )

• manchettes are roughly normal at steps 8-10 but abnormally elongated at steps 11-12

abnormal spermiogenesis ( J:325559 )

• spermiogenesis is impaired with spermatid head elongation and maturation defects at step 9, ultimately leading to abnormal spermatozoa at step 16 of spermiogenesis

abnormal cauda epididymis morphology ( J:325559 )

• fewer spermatozoa are found in the cauda epididymal lumen

male infertility ( J:325559 )

• 2-mo-old male mice fail to produce any offspring after mating with wild-type adult females

• however, mounting behavior is normal and coital plugs are observed