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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smap2tm1Sata
targeted mutation 1, Masanobu Satake
MGI:5762694
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Smap2tm1Sata/Smap2tm1Sata involves: 129P2/OlaHsd * C57BL/6J MGI:5762713
cx2
Smap1tm1.1Sata/Smap1tm1.1Sata
Smap2tm1Sata/Smap2tm1Sata
involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj MGI:5762697


Genotype
MGI:5762713
hm1
Allelic
Composition
Smap2tm1Sata/Smap2tm1Sata
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smap2tm1Sata mutation (1 available); any Smap2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female mice are fertile
• MitoRed staining showed that some sperm mitochondria do not move to the axoneme and remain near the nucleus, whereas wild-type mitochondria are aligned along the axoneme
• acrosome does not form the typical crescent but is irregular in shape and often remains separated into discrete foci
• localization of ZP3R (zona pellucida 3 receptor, a marker for acrosome formation also known as SP56) is highly aberrant or absent
• in the Golgi phase, the diameter of proacrosomal vesicles budding from the trans-Golgi network (TGN) is significantly increased while the TGN lamellar structure is distorted forming loose whorls
• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in the acrosome phase, ectoplasmic specializations are interrupted and the acrosome appears swollen near the marginal ring; in some cells, a space between the acrosome and nucleus appears to be filled with a Sertoli cell protrusion
• in the maturation phase, the nucleus appears fragmented and the acrosome is dispersed
• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in some cells, one acrosome appears to be formed but is significantly enlarged in size while the TGN is disorganized and partly distended
• 79% of epididymal sperm exhibit a cylindrical or round head
• most spermatids in the seminiferous tubules possess round heads
• spermatogonial stem cell transplantation experiments show that globozoospermia is intrinsic to germ cells and not to supporting cells
• in some cases, anchoring of the acrosome to the nucleus appears weak, resulting in invagination of Sertoli cells into the spermatid
• in the maturation phase of acrosome formation, the manchette is sometimes located ectopically
• in some cells, an invagination of the manchette into the nucleus is observed
• % of moving sperm is 17 +/- 2% versus 49 +/- 14% in heterozygous control males
• % of moving forward sperm is 9.0 +/- 1.2% versus 31 +/- 8.1% in heterozygous control males
• average path velocity (VAP), straight-line velocity (VSL), curvilinear velocity (VCL), amplitude of lateral head displacement (ALH), and beat cross frequency (BCF) are significantly reduced
• however, % of linearity (LIN), straightness (STR), and elongation are normal
• in the acrosome phase, ectoplasmic specializations derived from Sertoli cells are interrupted
• during spermiogenesis, formation of proacrosomal vesicles from the trans-Golgi network (TGN) is disrupted, resulting in severely impaired acrosome formation
• reorganization of the nucleus does not proceed properly
• epididymal sperm show incomplete shedding of cytoplasmic content with many mitochondria detected near the nucleus
• adult male mice are infertile
• in an in vitro fertilization assay using wild-type oocytes, the % of 2-cell embryos derived from homozygous mutant sperm is only 3.9% versus 38% from heterozygous control sperm
• however, after intracytoplasmic sperm injection (ICSI) the % of pup production is relatively normal

cellular
• MitoRed staining showed that some sperm mitochondria do not move to the axoneme and remain near the nucleus, whereas wild-type mitochondria are aligned along the axoneme
• acrosome does not form the typical crescent but is irregular in shape and often remains separated into discrete foci
• localization of ZP3R (zona pellucida 3 receptor, a marker for acrosome formation also known as SP56) is highly aberrant or absent
• in the Golgi phase, the diameter of proacrosomal vesicles budding from the trans-Golgi network (TGN) is significantly increased while the TGN lamellar structure is distorted forming loose whorls
• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in the acrosome phase, ectoplasmic specializations are interrupted and the acrosome appears swollen near the marginal ring; in some cells, a space between the acrosome and nucleus appears to be filled with a Sertoli cell protrusion
• in the maturation phase, the nucleus appears fragmented and the acrosome is dispersed
• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in some cells, one acrosome appears to be formed but is significantly enlarged in size while the TGN is disorganized and partly distended
• 79% of epididymal sperm exhibit a cylindrical or round head
• most spermatids in the seminiferous tubules possess round heads
• spermatogonial stem cell transplantation experiments show that globozoospermia is intrinsic to germ cells and not to supporting cells
• in some cases, anchoring of the acrosome to the nucleus appears weak, resulting in invagination of Sertoli cells into the spermatid
• in the maturation phase of acrosome formation, the manchette is sometimes located ectopically
• in some cells, an invagination of the manchette into the nucleus is observed
• % of moving sperm is 17 +/- 2% versus 49 +/- 14% in heterozygous control males
• % of moving forward sperm is 9.0 +/- 1.2% versus 31 +/- 8.1% in heterozygous control males
• average path velocity (VAP), straight-line velocity (VSL), curvilinear velocity (VCL), amplitude of lateral head displacement (ALH), and beat cross frequency (BCF) are significantly reduced
• however, % of linearity (LIN), straightness (STR), and elongation are normal

endocrine/exocrine glands
• in the acrosome phase, ectoplasmic specializations derived from Sertoli cells are interrupted




Genotype
MGI:5762697
cx2
Allelic
Composition
Smap1tm1.1Sata/Smap1tm1.1Sata
Smap2tm1Sata/Smap2tm1Sata
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smap1tm1.1Sata mutation (0 available); any Smap1 mutation (28 available)
Smap2tm1Sata mutation (1 available); any Smap2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryonic lethality is triggered around E7.5-8.5, with no viable double homozygous mutant pups recovered at weaning (P21)

embryo
• TUNEL assays showed increased apoptosis in distal embryonic tissues at E7.5
• although double homozygous mutant embryos implant and develop into egg cylinders, they appear degenerated at both E8.5 and E10.5
• DAPI staining of E7.5 egg cylinders showed disorganization of embryonic structures, esp. in the distal region

cellular
• TUNEL assays showed increased apoptosis in distal embryonic tissues at E7.5





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory