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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Septin12em1Lych
endonuclease-mediated mutation 1, Lingyi Chen
MGI:7280674
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Septin12em1Lych/Septin12em1Lych C57BL/6-Septin12em1Lych MGI:7327402
ht2
Septin12em1Lych/Septin12+ C57BL/6-Septin12em1Lych MGI:7327408


Genotype
MGI:7327402
hm1
Allelic
Composition
Septin12em1Lych/Septin12em1Lych
Genetic
Background
C57BL/6-Septin12em1Lych
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Septin12em1Lych mutation (0 available); any Septin12 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• male mice show normal gross testis morphology and weight relative to wild-type and heterozygous males
• H&E staining showed less spermatozoa in testis and epididymis sections
• cauda epididymal sperm count is about half of that in wild-type and heterozygous males
• ~90% of epididymal sperm show abnormal morphologies, including round sperm heads, headless sperm, bent tail and bent neck
• PNA staining showed no acrosome signal in cauda epididymal spermatozoa, suggesting no acrosome or lack of beta-D-galactosylation on acrosomal membrane proteins
• given that the acrosome is formed normally in the testis, acrosome formation is likely to be affected at the maturation phase
• spermatids show reduced acrosomal enrichment of PLCZ1 but normal acrosome formation
• no pups are born when males are mated with wild-type female mice for a 3-mo period
• Ca2+ oscillations are not properly triggered in ICSI embryos with mutant sperm, suggesting that sperm defects affect oocyte activation after ICSI
• after intracytoplasmic sperm injection (ICSI), only ~15% of wild-type oocytes injected with mutant sperm develop to 2-cell embryos, indicating fertilization failure after ICSI
• after artificial oocyte activation (AOA) treatment, the 2-cell embryo rate in the ICSI group injected with mutant sperm is increased from ~15% to ~40%
• failure to initiate Ca2+ oscillations in ICSI embryos with mutant sperm contributes to fertilization failure after ICSI
• even after AOA treatment, only 2 out of total 73 embryos injected with mutant sperm reach the blastocyst stage, suggesting that additional sperm defects affect the in vitro developmental potential of zygotes, and these are not rescued by ICSI-AOA
• cauda epididymal spermatozoa show reduced expression of PLCZ1 (phospholipase C zeta 1), known to play a key role in inducing calcium oscillations, at the acrosomal and post-acrosomal regions
• cauda epididymal sperm motility is severely reduced relative to that in wild-type and heterozygous males

cellular
• H&E staining showed less spermatozoa in testis and epididymis sections
• cauda epididymal sperm count is about half of that in wild-type and heterozygous males
• ~90% of epididymal sperm show abnormal morphologies, including round sperm heads, headless sperm, bent tail and bent neck
• PNA staining showed no acrosome signal in cauda epididymal spermatozoa, suggesting no acrosome or lack of beta-D-galactosylation on acrosomal membrane proteins
• given that the acrosome is formed normally in the testis, acrosome formation is likely to be affected at the maturation phase
• spermatids show reduced acrosomal enrichment of PLCZ1 but normal acrosome formation
• cauda epididymal sperm motility is severely reduced relative to that in wild-type and heterozygous males




Genotype
MGI:7327408
ht2
Allelic
Composition
Septin12em1Lych/Septin12+
Genetic
Background
C57BL/6-Septin12em1Lych
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Septin12em1Lych mutation (0 available); any Septin12 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• surprisingly, heterozygous male mice show normal testis morphology and weight and are fertile, unlike the infertile heterozygous Septin12tm1.1Plk male chimeras reported in J:147965
• after intracytoplasmic sperm injection (ICSI), 69% of wild-type oocytes injected with heterozygous sperm develop to 2-cell embryos and only 8.6% develop to the blastocyst stage, indicating that sperm quality is slightly impaired only under sub-optimal in vitro conditions





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory