About   Help   FAQ
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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory