All Phenotypes Dnah2<em1(IMPC)Tcp> MGI Mouse

reproductive system phenotype ( J:307872 )

N	• female mice are fertile when mated with wild-type males

abnormal sperm flagellum morphology ( J:307872 )

• cauda epididymal sperm cells show severe heterogeneous flagellar abnormalities, including absent, short, bent, coiled, and/or irregular caliber flagella

abnormal outer dense fiber morphology ( J:307872 )

• misaligned outer dense fibers (ODFs) are observed in the sperm midpiece region

abnormal sperm axoneme morphology ( J:307872 )

• an incomplete 9 + 2 axonemal structure, delocalized microtubule doublets, and lack of axonemal components are observed in the midpiece; inner dynein arm (IDA) and outer dynein arm (ODA) structures are observed from the microtubule doublets occasionally

• DNAH1 protein (another IDA component) and RSPH3 (a radial spoke protein) are both absent

• however, DNAH9 (an ODA protein) is present

abnormal sperm connecting piece morphology ( J:307872 )

• core centriolar proteins, CENTRIN1 and gamma-Tubulin, typically not present in wild-type epididymal sperm, are aberrantly detected near the connecting piece

• although the basal plate and capitulum are present, overall ultrastructure near the connecting piece is severely disorganized

abnormal sperm end piece morphology ( J:307872 )

• sperm end piece shows disarrangement of ODFs and microtubule doublets

abnormal sperm flagellum thickness ( J:307872 )

• ~28.4% of sperm flagella show an irregular-caliber shape

abnormal sperm midpiece morphology ( J:307872 )

• epididymal sperm cells exhibit morphological defects in the midpiece region

• TEM images show not only abnormally arranged mitochondria but also misaligned outer dense fibers (ODFs) and microtubule doublets in the midpiece

abnormal sperm annulus morphology ( J:307872 )

• formation of the annulus is deregulated in epididymal sperm: most epididymal sperm cells with short tails aberrantly express SEPTIN4 and SEPTIN12 (components of the annulus) near the connecting piece, rather than at the junction between the midpiece and principal piece as in wild-type sperm

• annulus-like electron-dense areas are detected very close to the connecting piece

• sometimes the annulus-like structure is even placed before mitochondria appear

abnormal sperm mitochondrial sheath morphology ( J:307872 )

• some sperm cells show irregular mitochondrial arrangement around the flagellum and/or mitochondria wrapped around the head

absent sperm mitochondrial sheath ( J:307872 )

• some sperm lack mitochondria completely

abnormal sperm principal piece morphology ( J:307872 )

• sperm principal piece shows disarrangement of ODFs and microtubule doublets

• ODF #6 is missing and ODFs #3 and #8 are not incorporated into the fibrous sheath

abnormal sperm fibrous sheath morphology ( J:307872 )

• frequently, the longitudinal columns of the sperm fibrous sheath are not fused to the ODFs at positions 3 and 8

absent sperm fibrous sheath ( J:307872 )

• entire sperm fibrous sheath is frequently missing in the prospective principal piece

absent sperm flagellum ( J:307872 )

• ~31.1% of sperm flagella are absent

coiled sperm flagellum ( J:307872 )

• ~15.9% of sperm flagella are coiled

kinked sperm flagellum ( J:307872 )

• ~11.4% of sperm flagella are bent

short sperm flagellum ( J:307872 )

• ~9.2% of sperm flagella are short

oligozoospermia ( J:307872 )

• significantly fewer sperm cells are observed in the lumen of the epididymis

abnormal sperm head morphology ( J:307872 )

• cauda epididymal sperm cells exhibit mild morphological head abnormalities

immotile sperm ( J:307872 )

• a very small number of sperm cells show relatively normal-length but immotile tails that only vibrate and twitch

abnormal spermiogenesis ( J:307872 )

• males produce less sperm with elongated tails in the lumen of seminiferous tubule in testis, resulting in fewer sperm cells in the epididymis

• after step 8, developing spermatids show impaired flagella elongation and compartmentalization, with dysregulated expression and localization of basal body (CENTRIN1) and annulus (SEPTIN4) components

• some spermatids exhibit more than two centrioles

• developing spermatids show impaired annulus migration, resulting in heterogeneous annulus localization in epididymal sperm

• mild head shaping defects are also observed during spermiogenesis

male infertility ( J:307872 )

• despite their normal sexual behavior, male mice are infertile

cellular phenotype ( J:307872 )

N	• cilia in tracheal and oviductal epithelia appear morphologically normal