Phenotypes associated with this allele

• Allele Symbol: Csl^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:4842999
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Csl^tm1(KOMP)Vlcg/Csl^tm1(KOMP)Vlcg	involves: C57BL/6NTac	MGI:6458057

Genotype
MGI:6458057

hm1

• Allelic Composition: Csl^{tm1(KOMP)Vlcg}/Csl^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6NTac
• Cell Lines: 14519A-G5

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

reproductive system

reproductive system phenotype ( J:287403 )

♂N • males exhibit normal sperm morphology and motility as well as normal protein localization of PLCZ1 (phospholipase C zeta 1) in the post-acrosomal region of the sperm head relative to wild-type controls

decreased litter size ( J:287403 )

♂ • litter size is significantly reduced when >6-month-old mutant males are mated with 8-10-week-old mutant females

reduced male fertility ( J:287403 )

♂ • 8- to 12-week-old mutant males are fertile but show an age-dependent decline in fertility with a significantly reduced litter size in 6-month-old mutant males

abnormal egg activation ( J:287403 )

• initiation of the first spike of Ca²⁺ oscillation is significantly delayed in zona pellucida (ZP)-intact wild-type eggs fused with mutant sperm; no first spike occurs during 90 min in 73.3% of eggs inseminated with mutant sperm

• the frequency of Ca²⁺ oscillation is significantly lower in wild-type eggs fused with mutant sperm than that in wild-type eggs fused with wild-type sperm

• however, Ca²⁺ oscillation is normal in terms of amplitude and interval

decreased fertilization frequency ( J:287403 )

• in an in vitro fertilization assay, sperm collected from 6-month-old mutant males show significantly reduced two-cell formation relative to sperm from 6-month-old wild-type males

abnormal sperm physiology ( J:287403 )

♂ • decreased levels of citrate in the TCA cycle suggest a deficiency of ATP production in mutant sperm

♂ • sperm dysfunction when inducing Ca²⁺ oscillation in the egg after fusion with mutant sperm

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:287403 )

♂ • total citrate synthase (CS) activity including extra-mitochondrial CS (eCS) activity is significantly reduced in cauda epididymal sperm from 8-12-week-old mutant males

abnormal nucleotide metabolism ( J:287403 )

♂ • adenine levels are significantly increased in sperm from 6-month-old mutant males

cellular

abnormal tricarboxylic acid cycle ( J:287403 )

♂ • citrate levels are significantly lower in mutant sperm whereas fumarate levels tend to increase relative to those in wild-type sperm

♂ • metabolomic analysis of aged sperm revealed that aging enhances the TCA cycle, presumably resulting in depletion of extra-mitochondrial citrate and sperm dysfunction when inducing Ca²⁺ oscillation in the egg after fusion with sperm