Phenotypes associated with this allele

• Allele Symbol: Agfg1^tm1Jvd
• Allele Name: targeted mutation 1, Jan M A van Deursen
• Allele ID: MGI:2182772
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Agfg1^tm1Jvd/Agfg1^tm1Jvd	involves: 129P2/OlaHsd	MGI:3609494

Genotype
MGI:3609494

hm1

• Allelic Composition: Agfg1^tm1Jvd/Agfg1^tm1Jvd
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

abnormal gametogenesis ( J:72756 )

oligozoospermia ( J:72756 )

♂ • ~15-fold fewer spermatozoa in cauda epididymis compared to normal; however, testicular weight is normal

♂ • absence of elongated spermatids in tubules

teratozoospermia ( J:72756 , J:102121 )

♂ (J:72756)

♂ • spermatids with multinucleations, macrocephaly and multiflagellated (J:102121)

♂ • about 34% with supernumary centrioles (J:102121)

abnormal sperm axoneme morphology ( J:89391 )

♂ • displacement of the head-to-tail connecting apparatus results in the angular orientation of the developing axoneme/spermatid tail

abnormal sperm connecting piece morphology ( J:89391 )

♂ • 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

absent sperm mitochondrial sheath ( J:72756 )

♂ • midpiece lacked mitochondrial sheath

multiflagellated sperm ( J:102121 )

♂ • multiflagellated spermatids

abnormal acroplaxome morphology ( J:89391 )

♂ • an acroplaxome marginal ring is not apparent; it lacks both the nuclear and acrosome-dense plaques and the K5-containing intermediate filament bundles

abnormal acrosome morphology ( J:89391 )

♂ • 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

abnormal proacrosomal vesicle fusion ( J:72756 )

♂ • proacrosomic vesicles accumulate but fail to fuse in 2nd step of spermiogenesis

globozoospermia ( J:72756 )

♂ • globic sperm heads with a round nucleus

absent acrosome ( J:72756 )

♂ • round spermatids lack an acrosome

abnormal sperm nucleus morphology ( J:72756 , J:89391 , J:102121 )

♂ • 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)

enlarged sperm head ( J:102121 )

♂ • 13% of sperm display macrocephaly along with multiflagellation

abnormal manchette morphology ( J:89391 )

♂ • 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

ectopic manchette ( J:89391 )

♂ • manchette assembles ectopically, with its dense microtubule insertion ring anchored to the plasma membrane and microtubule bundles occupying a nuclear lateral position

elongated manchette ( J:89391 )

♂ • manchette length is significantly increased

arrest of spermiogenesis ( J:72756 )

♂ • arrest in acrosome vesicle biogenesis at step 2 of spermiogenesis due to impaired docking and/or fusion of proacrosomic vesicles

abnormal reproductive system physiology ( J:72756 )

asthenozoospermia ( J:72756 , J:102121 )

♂ (J:72756)

♂ • feeble lateral motion and no forward motility (J:102121)

male infertility ( J:72756 )

♂ • males are infertile although sexual behavior and copulation are normal

impaired fertilization ( J:72756 )

• in vitro fertilization experiments revealed that spermatozoa are unable to establish sperm-egg attachment and fertilization

cellular

oligozoospermia ( J:72756 )

♂ • ~15-fold fewer spermatozoa in cauda epididymis compared to normal; however, testicular weight is normal

♂ • absence of elongated spermatids in tubules

teratozoospermia ( J:72756 , J:102121 )

♂ (J:72756)

♂ • spermatids with multinucleations, macrocephaly and multiflagellated (J:102121)

♂ • about 34% with supernumary centrioles (J:102121)

abnormal sperm axoneme morphology ( J:89391 )

♂ • displacement of the head-to-tail connecting apparatus results in the angular orientation of the developing axoneme/spermatid tail

abnormal sperm connecting piece morphology ( J:89391 )

♂ • 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

absent sperm mitochondrial sheath ( J:72756 )

♂ • midpiece lacked mitochondrial sheath

multiflagellated sperm ( J:102121 )

♂ • multiflagellated spermatids

abnormal acroplaxome morphology ( J:89391 )

♂ • an acroplaxome marginal ring is not apparent; it lacks both the nuclear and acrosome-dense plaques and the K5-containing intermediate filament bundles

abnormal acrosome morphology ( J:89391 )

♂ • 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

abnormal proacrosomal vesicle fusion ( J:72756 )

♂ • proacrosomic vesicles accumulate but fail to fuse in 2nd step of spermiogenesis

globozoospermia ( J:72756 )

♂ • globic sperm heads with a round nucleus

absent acrosome ( J:72756 )

♂ • round spermatids lack an acrosome

abnormal sperm nucleus morphology ( J:72756 , J:89391 , J:102121 )

♂ • 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)

enlarged sperm head ( J:102121 )

♂ • 13% of sperm display macrocephaly along with multiflagellation

abnormal manchette morphology ( J:89391 )

♂ • 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

ectopic manchette ( J:89391 )

♂ • manchette assembles ectopically, with its dense microtubule insertion ring anchored to the plasma membrane and microtubule bundles occupying a nuclear lateral position

elongated manchette ( J:89391 )

♂ • manchette length is significantly increased

asthenozoospermia ( J:72756 , J:102121 )

♂ (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