Phenotypes Associated with This Genotype

Genotype
MGI:5295270

• Allelic Composition: Spef2^bgh/Spef2^bgh
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/10J

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

mortality/aging

mortality/aging ( J:176695 )

N • Background Sensitivity: mice exhibit no early mortality unlike on a background lacking 129S6/SvEvTac

reproductive system

reproductive system phenotype ( J:176695 )

♀N • female mice are fertile

abnormal spermatogenesis ( J:176695 )

♂ • mice exhibit a reduction in the number of elongating spermatids in the stage II-V tubules

♂ • however, acrosome formation is normal

abnormal sperm flagellum morphology ( J:176695 )

♂ • short and disorganized

abnormal sperm axoneme morphology ( J:176695 )

♂

abnormal sperm mitochondrial morphology ( J:176695 )

♂ • mitochondria are either absent from the sperm tail or are highly disorganized

abnormal sperm fibrous sheath morphology ( J:176695 )

♂ • fibrous sheath formation is defective

short sperm flagellum ( J:176695 )

♂

oligozoospermia ( J:176695 )

♂ • very few mature sperm are present in the cauda epididymis

male infertility ( J:176695 )

♂

respiratory system

abnormal respiratory motile cilium physiology ( J:176695 )

• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

sinus inflammation ( J:176695 )

nervous system

nervous system phenotype ( J:176695 )

N • Background Sensitivity: mice do not exhibit evidence of gross hydrocephalus unlike on a background lacking 129S6/SvEvTac

immune system

sinus inflammation ( J:176695 )

cellular

abnormal sperm flagellum morphology ( J:176695 )

♂ • short and disorganized

abnormal sperm axoneme morphology ( J:176695 )

♂

abnormal sperm mitochondrial morphology ( J:176695 )

♂ • mitochondria are either absent from the sperm tail or are highly disorganized

abnormal sperm fibrous sheath morphology ( J:176695 )

♂ • fibrous sheath formation is defective

short sperm flagellum ( J:176695 )

♂

oligozoospermia ( J:176695 )

♂ • very few mature sperm are present in the cauda epididymis

abnormal respiratory motile cilium physiology ( J:176695 )

• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:176695