Phenotypes associated with this allele

• Allele Symbol: Slc22a14^em1Fjw
• Allele Name: endonuclease-mediated mutation 1, Wataru Fujii
• Allele ID: MGI:6356365
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc22a14^em1Fjw/Slc22a14^em1Fjw	involves: C57BL/6N	MGI:6357674

Genotype
MGI:6357674

hm1

• Allelic Composition: Slc22a14^em1Fjw/Slc22a14^em1Fjw
• Genetic Background: involves: C57BL/6N

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

reproductive system

reproductive system phenotype ( J:277914 )

♀N • female fertility is normal

abnormal sperm flagellum morphology ( J:277914 , J:322731 )

♂ • the % of cauda epididymal sperm with abnormal flagellar bending is significantly higher than that in wild-type controls; however, flagella of testicular sperm or caput and corpus epididymal sperm are almost straight (J:277914)

♂ • abnormal flagellar bending is partly caused by osmotic cell swelling as osmotic challenge or membrane permeabilization (Triton X-100) treatment alleviates the tail abnormality (J:277914)

♂ • occasionally, breakage at the midpiece-principal piece junction is observed (J:277914)

♂ • addition of TMA and cAMP/IBMX does not rescue abnormal flagellar bending (J:322731)

abnormal sperm annulus morphology ( J:277914 )

♂ • the annulus is disorganized and often detached from the plasma membrane

♂ • retention of cytoplasmic droplets is observed in many sperm

♂ • expression and localization of septin 4, an annulus component protein essential for annulus formation, is impaired

hairpin sperm flagellum ( J:277914 )

♂ • cauda epididymal sperm are mostly folded at 180 degrees (hairpin-shaped)

♂ • hairpin-shaped sperm are decreased in hyperosmotic conditions or after Triton X-100 treatment

kinked sperm flagellum ( J:277914 )

♂ • some cauda epididymal sperm are folded to less than 180 degrees (V-shaped)

♂ • V-shaped sperm are increased in hyperosmotic conditions or after Triton X-100 treatment

impaired sperm migration in female genital tract ( J:277914 )

♂ • following mating of mutant males with wild-type females, the number of spermatozoa in the uterus horns 2.5 h after coitus is <1% of that in wild-type mice, indicating impaired sperm migration into the uterus

decreased sperm progressive motility ( J:277914 )

♂ • percentage of motile epididymal sperm with weak or no progressive motility is significantly increased

asthenozoospermia ( J:277914 , J:322731 )

♂ • cauda epididymal spermatozoa show impaired motility; the % of highly motile sperm with progressive motility is significantly lower than that in wild-type controls (J:277914)

♂ • following mating of mutant males with wild-type females, the number of spermatozoa in the uterus horns 2.5 h after of coitus is less than 1% of that in wild-type controls (J:277914)

♂ • addition of TMA and cAMP/IBMX does not rescue the decreased sperm motility (J:322731)

impaired sperm capacitation ( J:277914 , J:322731 )

♂ • no increase in intracellular protein tyrosine phosphorylation level is observed following sperm incubation in capacitating conditions, unlike in wild-type sperm (J:277914)

♂ • influx of HCO₃^- (a trigger of capacitation) is impaired and intracellular pH (pHi) is decreased in cauda epididymal spermatozoa (J:322731)

♂ • in vitro, intracellular cAMP concentration does not increase during capacitation, unlike in wild-type spermatozoa, but HCO₃^--dependent soluble adenylate cyclase activity is normal (J:322731)

♂ • addition of 8-bromo cAMP plus IBMX (phosphodiesterase inhibitor) almost completely rescues the decreased protein tyrosine phosphorylation (J:322731)

♂ • when only 8-bromo cAMP is added, recovery of tyrosine phosphorylation is approximately 50% (J:322731)

reduced male fertility ( J:277914 )

♂ • although a vaginal plug is usually observed, males exhibit severe infertility

♂ • however, gross testis morphology, testis weight and number of cauda epididymal spermatozoa are unaffected, suggesting normal spermatogenesis

impaired fertilization ( J:277914 )

♂ • fertilizing ability of sperm is significantly impaired both in vivo and in vitro

decreased fertilization frequency ( J:277914 , J:322731 )

• following mating of mutant males with wild-type females, the number of 2-cell embryos recovered from oviducts 1.5 days after coitus is strikingly reduced (J:277914)

• in vitro fertilization using mutant spermatozoa and wild-type oocytes revealed a significant reduction in the number of 2-cell embryos 24 h after insemination (J:277914)

♂ • decreased in vitro fertilization rate is partially rescued by addition of 10 mM trimethylamine (TMA) plus 8-bromo cAMP/IBMX (J:322731)

♂ • however, addition of 10 mM TMA or 8-bromo cAMP/IBMX alone has no significant effect on in vitro fertilization rate (J:322731)

cellular

abnormal sperm flagellum morphology ( J:277914 , J:322731 )

♂ • the % of cauda epididymal sperm with abnormal flagellar bending is significantly higher than that in wild-type controls; however, flagella of testicular sperm or caput and corpus epididymal sperm are almost straight (J:277914)

♂ • abnormal flagellar bending is partly caused by osmotic cell swelling as osmotic challenge or membrane permeabilization (Triton X-100) treatment alleviates the tail abnormality (J:277914)

♂ • occasionally, breakage at the midpiece-principal piece junction is observed (J:277914)

♂ • addition of TMA and cAMP/IBMX does not rescue abnormal flagellar bending (J:322731)

abnormal sperm annulus morphology ( J:277914 )

♂ • the annulus is disorganized and often detached from the plasma membrane

♂ • retention of cytoplasmic droplets is observed in many sperm

♂ • expression and localization of septin 4, an annulus component protein essential for annulus formation, is impaired

hairpin sperm flagellum ( J:277914 )

♂ • cauda epididymal sperm are mostly folded at 180 degrees (hairpin-shaped)

♂ • hairpin-shaped sperm are decreased in hyperosmotic conditions or after Triton X-100 treatment

kinked sperm flagellum ( J:277914 )

♂ • some cauda epididymal sperm are folded to less than 180 degrees (V-shaped)

♂ • V-shaped sperm are increased in hyperosmotic conditions or after Triton X-100 treatment

impaired sperm migration in female genital tract ( J:277914 )

♂ • following mating of mutant males with wild-type females, the number of spermatozoa in the uterus horns 2.5 h after coitus is <1% of that in wild-type mice, indicating impaired sperm migration into the uterus

decreased sperm progressive motility ( J:277914 )

♂ • percentage of motile epididymal sperm with weak or no progressive motility is significantly increased

asthenozoospermia ( J:277914 , J:322731 )

♂ • cauda epididymal spermatozoa show impaired motility; the % of highly motile sperm with progressive motility is significantly lower than that in wild-type controls (J:277914)

♂ • following mating of mutant males with wild-type females, the number of spermatozoa in the uterus horns 2.5 h after of coitus is less than 1% of that in wild-type controls (J:277914)

♂ • addition of TMA and cAMP/IBMX does not rescue the decreased sperm motility (J:322731)

homeostasis/metabolism

abnormal ion homeostasis ( J:322731 )

♂ • influx of HCO₃^- (a trigger of capacitation) is impaired and intracellular pH (pHi) is decreased in cauda epididymal spermatozoa

abnormal pH regulation ( J:322731 )

♂ • in the absence of HCO₃^-, the intracellular pH (pHi) of cauda epididymal spermatozoa is lower than that in wild-type spermatozoa

♂ • addition of HCO₃^- fails to gradually increase the pHi during sperm capacitation, unlike in wild-type spermatozoa

♂ • addition of 10 mM trimethylamine (TMA), an alkalization agent known to sustain increased pHi, restores sperm pHi to wild-type levels

integument

integument phenotype ( J:277914 )

N • no alopecia is observed