Phenotypes Associated with This Genotype

Genotype
MGI:7859524

• Allelic Composition: Dynlt2b^em1Ktmr/Dynlt2b^em1Ktmr
• Genetic Background: C57BL/6N-Dynlt2b^em1Ktmr

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

reproductive system

abnormal sperm flagellum morphology ( J:361529 )

♂ • in stage I-III seminiferous tubules a layer structure of germ cells is present but few flagella are present in the tubule lumen

♂ • almost all sperm flagella show markedly abnormal morphology

♂ • 9+2 microtubule structure, inner dynein arm, outer dynein arm, outer dense fiber, and fibrous sheath are disorganized and scattered

abnormal outer dense fiber morphology ( J:361529 )

♂

abnormal sperm axoneme morphology ( J:361529 )

♂ • axoneme fail to elongate normally and show significant defects from step 4 spermatids onwards

♂ • components are disorganized, doublet microtubules are not formed, and many single microtubules are seen

abnormal sperm fibrous sheath morphology ( J:361529 )

coiled sperm flagellum ( J:361529 )

♂ • some flagella are short and coiled

oligozoospermia ( J:361529 )

♂ • significant decrease in the number of sperm in the cauda epididymis

decreased elongated spermatid number ( J:361529 )

♂ • only a few elongated spermatids are seen in the lumen of stage VII seminiferous tubules

immotile sperm ( J:361529 )

♂

male infertility ( J:361529 )

♂ • completely infertile

♂ • however, testes/body weight ratio is similar to wild-type controls

cellular

cellular phenotype ( J:361529 )

N • no defects in cilia morphology in cells of the ventricles, trachea or oviducts

abnormal sperm flagellum morphology ( J:361529 )

♂ • in stage I-III seminiferous tubules a layer structure of germ cells is present but few flagella are present in the tubule lumen

♂ • almost all sperm flagella show markedly abnormal morphology

♂ • 9+2 microtubule structure, inner dynein arm, outer dynein arm, outer dense fiber, and fibrous sheath are disorganized and scattered

abnormal outer dense fiber morphology ( J:361529 )

♂

abnormal sperm axoneme morphology ( J:361529 )

♂ • axoneme fail to elongate normally and show significant defects from step 4 spermatids onwards

♂ • components are disorganized, doublet microtubules are not formed, and many single microtubules are seen

abnormal sperm fibrous sheath morphology ( J:361529 )

coiled sperm flagellum ( J:361529 )

♂ • some flagella are short and coiled

oligozoospermia ( J:361529 )

♂ • significant decrease in the number of sperm in the cauda epididymis

decreased elongated spermatid number ( J:361529 )

♂ • only a few elongated spermatids are seen in the lumen of stage VII seminiferous tubules

immotile sperm ( J:361529 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spermatogenic failure		DOID:0111910	OMIM:PS258150	J:361529