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Phenotypes Associated with This Genotype
Genotype
MGI:3609494
Allelic
Composition
Agfg1tm1Jvd/Agfg1tm1Jvd
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agfg1tm1Jvd mutation (0 available); any Agfg1 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• ~15-fold fewer spermatozoa in cauda epididymis compared to normal; however, testicular weight is normal
• absence of elongated spermatids in tubules
(J:72756)
• spermatids with multinucleations, macrocephaly and multiflagellated (J:102121)
• about 34% with supernumary centrioles (J:102121)
• displacement of the head-to-tail connecting apparatus results in the angular orientation of the developing axoneme/spermatid tail
• both the ectopic assembly site of the manchette and its increased length appear to displace the attachment of the head-to-tail connecting apparatus to the implantation fossa
• midpiece lacked mitochondrial sheath
• multiflagellated spermatids
• an acroplaxome marginal ring is not apparent; it lacks both the nuclear and acrosome-dense plaques and the K5-containing intermediate filament bundles
• acrosomeless spermatids show an acroplaxome plaque associated with a flat and narrow sac ("pseudoacrosome")
• acroplaxome-pseudoacrosome complex is attached to the spermatid nuclear envelope but the acrosome plate, inserted intermediate filaments, and shallow depression in the nuclear envelope are missing, and the nuclear lamina is thinner
• in some spermatids, pseudoacrosome length exceeds the length of the acroplaxome and diverges from it, forming a space where the microtubule-nucleating element of the manchette is housed
• in other spermatids, pseudoacrosome length is shorter than acroplaxome length, unlike in wild-type spermatids where length of acrosome and underlying acroplaxome is about equal
• proacrosomic vesicles accumulate but fail to fuse in 2nd step of spermiogenesis
• globic sperm heads with a round nucleus
• round spermatids lack an acrosome
• stage 16 sperm nuclei condensed but not elongated (J:72756)
• spermatid nuclear lamina, to which the acroplaxome appears to anchor, is significantly thinner (J:89391)
• during nuclear elongation, Sertoli cell-derived F-actin-containing hoops are less developed and rather distant from the spermatid nucleus (J:89391)
• as spermiogenesis progresses, two anomalies of the round-shaped spermatid nucleus are observed: nuclear peglike projections ("nucleopodes") at the acroplaxome site, and a deep nuclear indentation opposite to the acroplaxome harboring bundles of manchette microtubules (J:89391)
• nucleopodes are capped by the K5-deficient acroplaxome-pseudoacrosome complex (J:89391)
• variably shaped sperm nuclei at step 7 rather than exclusively round, often very deformed (J:102121)
• spermatids with multinucleations (J:102121)
• 13% of sperm display macrocephaly along with multiflagellation
• length of spermatid manchette is significantly increased while the belt groove demarcating the boundaries between the perinuclear ring of the manchette and the acrosome-acroplaxome complex is missing
• manchette assembles ectopically, with its dense microtubule insertion ring anchored to the plasma membrane and microtubule bundles occupying a nuclear lateral position
• manchette length is significantly increased
• arrest in acrosome vesicle biogenesis at step 2 of spermiogenesis due to impaired docking and/or fusion of proacrosomic vesicles
(J:72756)
• feeble lateral motion and no forward motility (J:102121)
• males are infertile although sexual behavior and copulation are normal
• in vitro fertilization experiments revealed that spermatozoa are unable to establish sperm-egg attachment and fertilization

cellular
• ~15-fold fewer spermatozoa in cauda epididymis compared to normal; however, testicular weight is normal
• absence of elongated spermatids in tubules
(J:72756)
• spermatids with multinucleations, macrocephaly and multiflagellated (J:102121)
• about 34% with supernumary centrioles (J:102121)
• displacement of the head-to-tail connecting apparatus results in the angular orientation of the developing axoneme/spermatid tail
• both the ectopic assembly site of the manchette and its increased length appear to displace the attachment of the head-to-tail connecting apparatus to the implantation fossa
• midpiece lacked mitochondrial sheath
• multiflagellated spermatids
• an acroplaxome marginal ring is not apparent; it lacks both the nuclear and acrosome-dense plaques and the K5-containing intermediate filament bundles
• acrosomeless spermatids show an acroplaxome plaque associated with a flat and narrow sac ("pseudoacrosome")
• acroplaxome-pseudoacrosome complex is attached to the spermatid nuclear envelope but the acrosome plate, inserted intermediate filaments, and shallow depression in the nuclear envelope are missing, and the nuclear lamina is thinner
• in some spermatids, pseudoacrosome length exceeds the length of the acroplaxome and diverges from it, forming a space where the microtubule-nucleating element of the manchette is housed
• in other spermatids, pseudoacrosome length is shorter than acroplaxome length, unlike in wild-type spermatids where length of acrosome and underlying acroplaxome is about equal
• proacrosomic vesicles accumulate but fail to fuse in 2nd step of spermiogenesis
• globic sperm heads with a round nucleus
• round spermatids lack an acrosome
• stage 16 sperm nuclei condensed but not elongated (J:72756)
• spermatid nuclear lamina, to which the acroplaxome appears to anchor, is significantly thinner (J:89391)
• during nuclear elongation, Sertoli cell-derived F-actin-containing hoops are less developed and rather distant from the spermatid nucleus (J:89391)
• as spermiogenesis progresses, two anomalies of the round-shaped spermatid nucleus are observed: nuclear peglike projections ("nucleopodes") at the acroplaxome site, and a deep nuclear indentation opposite to the acroplaxome harboring bundles of manchette microtubules (J:89391)
• nucleopodes are capped by the K5-deficient acroplaxome-pseudoacrosome complex (J:89391)
• variably shaped sperm nuclei at step 7 rather than exclusively round, often very deformed (J:102121)
• spermatids with multinucleations (J:102121)
• 13% of sperm display macrocephaly along with multiflagellation
• length of spermatid manchette is significantly increased while the belt groove demarcating the boundaries between the perinuclear ring of the manchette and the acrosome-acroplaxome complex is missing
• manchette assembles ectopically, with its dense microtubule insertion ring anchored to the plasma membrane and microtubule bundles occupying a nuclear lateral position
• manchette length is significantly increased
(J:72756)
• feeble lateral motion and no forward motility (J:102121)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
oligoasthenoteratozoospermia DOID:0070311 J:102121


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)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory