Phenotype Image Detail

Image

Caption

Tubulobulbar complex and residual body formation requires KATNAL2. (a-e) Electron microscopy showing elongated spermatid morphology during spermiation in wild-type (Katnal2^WT/WT, WT) and Katnal2^m1Anu/Katnal2^m1Anu (Katnal2^Y86C/Y86C) mice. Detachment of the acrosome (red arrowheads) from the nucleus was frequently observed in mutant (b) but not WT (a) spermatids. Retention of cytoplasm was frequently seen in mutant spermatids that had failed spermiation (c). Within the cytoplasm of retained spermatids, disorganised outer dense fibres (red arrowheads) were frequently observed (c). Ectoplasmic specializations (black arrowheads) showed normal morphology in mutant (d) and WT (a) spermatids, and were absent in mutant retained spermatids (e) indicating they were disassembled normally prior to spermiation. Tubulobulbar complexes (asterisks) were present in WT (a) spermatids but were absent in mutant spermatids (d). Scale bars in a-e = 1 um. Immunostaining of seminiferous tubules for the ectoplasmic specialization marker espin confirmed ectoplasmic specialisations were disassembled normally in WT and mutant spermatids (f-k). Ectoplasmic specializations were present in early step 16 (stage VII) WT (f) and mutant spermatids (i), but were absent from late step 16 (stage VIII) WT (g) and mutant spermatids (j) and from retained (stage IX) mutant spermatids (k). Immunostaining of seminiferous tubules for the tubulobulbar complex markers dynamin-2 and ARP2 confirmed the absence of tubulobulbar complexes from mutant (o-p) but not WT (l-m) spermatids. Residual body (arrowheads) formation in WT (n) versus mutant (q) mice. Residual bodies were absent in mutant (q) mice. Scale bars in f-q = 10 um.

Copyright

This image is from Dunleavy JEM, PLoS Genet 2017 Nov;13(11):e1007078, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:250115

Associated Alleles

Symbol	Name
Katnal2^m1Anu	katanin p60 subunit A-like 2; mutation 1, Australian National University

Associated Genotypes

Allelic Composition	Genetic Background
Katnal2^m1Anu/Katnal2^m1Anu	C57BL/6J-Katnal2^m1Anu