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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Septin4tm1Hs
targeted mutation 1, Hermann Steller
MGI:3574368
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Septin4tm1Hs/Septin4tm1Hs involves: 129/Sv * 129P2/OlaHsd * C57BL/6J MGI:3574662
ht2
Septin4tm1Hs/Septin4+ involves: 129/Sv * 129P2/OlaHsd * C57BL/6J MGI:3574663


Genotype
MGI:3574662
hm1
Allelic
Composition
Septin4tm1Hs/Septin4tm1Hs
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Septin4tm1Hs mutation (1 available); any Septin4 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• testis and epididymal histology remained normal, with no differences in testicular weight or epididymal sperm numbers relative to control mice
• sperm from the testis or the caput epididymis displayed a defect at the midpiece-principal piece junction along with thinning of the tail diameter in this region
• retention of cytoplasmic droplets at the head and neck region of sperm was noted throughout the epididymis
• a single plasma membrane encased both the mid- and principal piece of the sperm tail due to excess cytoplasm between the mid- and principal piece
• thinning of the tail diameter at the midpiece-principal piece junction
• the annulus was completely absent in sperm form the cauda epididymis
• although metabolically active, mitochondria in cauda sperm showed marked size heterogeneity with many small mitochondria of irregular appearance
• sperm mitochondria contained fewer cristae and often displayed severely reduced membrane material
• abnormally small sperm mitochondria were frequently stacked between neighbors, with some displaying fission defects
• the region immediately following the midpiece-principal piece tail transition of cauda sperm was often devoid of the transverse ribs of the fibrous sheath; as a result, the principal piece was severely bent
• the region immediately following the midpiece-principal piece tail transition of cauda sperm was often devoid of the transverse ribs of the fibrous sheath
• severe bending of the tail region, typically at 180 degrees, occurred when sperm entered the corpus epididymis and 50-70% of sperm that reach the cauda epididymis displayed the severe bending of the tail region
• sperm from the cauda epididymis showed a complete lack of motility
• defects in the postmeiotic stages of terminal sperm differentiation, including altered mitochondrial architecture, lack of annulus, severe bending of the sperm tail, and retention of cytoplasmic droplets with intense anti-XIAP staining
• sperm from the cauda epididymis are capacitation defective in vitro, as evidenced by no changes in tyrosine phosphorylation under capacitating conditions
• mating of male homozygotes with fertile females produced no offpsring over a 5-8 mating period

cellular
• sperm from the testis or the caput epididymis displayed a defect at the midpiece-principal piece junction along with thinning of the tail diameter in this region
• retention of cytoplasmic droplets at the head and neck region of sperm was noted throughout the epididymis
• a single plasma membrane encased both the mid- and principal piece of the sperm tail due to excess cytoplasm between the mid- and principal piece
• thinning of the tail diameter at the midpiece-principal piece junction
• the annulus was completely absent in sperm form the cauda epididymis
• although metabolically active, mitochondria in cauda sperm showed marked size heterogeneity with many small mitochondria of irregular appearance
• sperm mitochondria contained fewer cristae and often displayed severely reduced membrane material
• abnormally small sperm mitochondria were frequently stacked between neighbors, with some displaying fission defects
• the region immediately following the midpiece-principal piece tail transition of cauda sperm was often devoid of the transverse ribs of the fibrous sheath; as a result, the principal piece was severely bent
• the region immediately following the midpiece-principal piece tail transition of cauda sperm was often devoid of the transverse ribs of the fibrous sheath
• severe bending of the tail region, typically at 180 degrees, occurred when sperm entered the corpus epididymis and 50-70% of sperm that reach the cauda epididymis displayed the severe bending of the tail region
• sperm from the cauda epididymis showed a complete lack of motility




Genotype
MGI:3574663
ht2
Allelic
Composition
Septin4tm1Hs/Septin4+
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Septin4tm1Hs mutation (1 available); any Septin4 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• 20-30% of sperm showed an L-shaped morphology and a failure to straighten during their passage through the epididymis
• however, no sperm mitochondrial defects were observed and male fertility was not significantly reduced

cellular
• 20-30% of sperm showed an L-shaped morphology and a failure to straighten during their passage through the epididymis
• however, no sperm mitochondrial defects were observed and male fertility was not significantly reduced





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory