Phenotypes associated with this allele

• Allele Symbol: Ggnbp2^{Gt(IST12476F10)Tigm}
• Allele Name: gene trap IST12476F10, Texas A&M Institute for Genomic Medicine
• Allele ID: MGI:4072637
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ggnbp2^Gt(IST12476F10)Tigm/Ggnbp2^Gt(IST12476F10)Tigm	C57BL/6-Ggnbp2^Gt(IST12476F10)Tigm	MGI:5788670
hm2	Ggnbp2^Gt(IST12476F10)Tigm/Ggnbp2^Gt(IST12476F10)Tigm	involves: 129 * C57BL/6N	MGI:7258367

Genotype
MGI:5788670

hm1

• Allelic Composition: Ggnbp2^{Gt(IST12476F10)Tigm}/Ggnbp2^{Gt(IST12476F10)Tigm}
• Genetic Background: C57BL/6-Ggnbp2^{Gt(IST12476F10)Tigm}

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:232444 )

• homozyous mutant mice die between E13.5 and E15.5

embryo

embryo phenotype ( J:232444 )

N • average embryo sizes and placental weights in homozygous mutant fetuses were comparable to those of control siblings

N • organization of the placental junctional zone, including primary trophoblast giant cell and spongiotrophoblast layers in homozygous null mutant placentae, was similar to controls

abnormal placenta junctional zone morphology ( J:232444 )

abnormal placenta labyrinth morphology ( J:232444 )

• an anomalous labyrinth layer was noted in E13.5 and E15.5 placentae; abnormalities were indistinguishable at E10.5 but very pronounced at E15.5 dpc

abnormal placental labyrinth vasculature morphology ( J:232444 )

• the maternal and fetal vessel spaces in the labyrinth of mutant mice were taken up by large densely packed cell aggregates

• both maternal and fetal vascular spaces were dramatically reduced, while the labyrinth nonvessel area was markedly increased

• the labyrinth of mutant E15.5 placentae displayed an increase in the number of cells undergoing division, especially the cells in the densely packed cell aggregates; TUNEL assays did not exhibit a significant difference between Wt and mutant placentae so apoptosis was unaffected

• cell clusters likely were aggregates of trophoblast stem cells and trophoblast progenitors based on expression analysis

pale placenta ( J:232444 )

integument

pallor ( J:232444 )

• paler embryo

cardiovascular system

abnormal placental labyrinth vasculature morphology ( J:232444 )

• the maternal and fetal vessel spaces in the labyrinth of mutant mice were taken up by large densely packed cell aggregates

• both maternal and fetal vascular spaces were dramatically reduced, while the labyrinth nonvessel area was markedly increased

• the labyrinth of mutant E15.5 placentae displayed an increase in the number of cells undergoing division, especially the cells in the densely packed cell aggregates; TUNEL assays did not exhibit a significant difference between Wt and mutant placentae so apoptosis was unaffected

• cell clusters likely were aggregates of trophoblast stem cells and trophoblast progenitors based on expression analysis

Genotype
MGI:7258367

hm2

• Allelic Composition: Ggnbp2^{Gt(IST12476F10)Tigm}/Ggnbp2^{Gt(IST12476F10)Tigm}
• Genetic Background: involves: 129 * C57BL/6N

mortality/aging

decreased survivor rate ( J:249037 )

• 6.8% of males and female mice are born alive and survive into adulthood

prenatal lethality, incomplete penetrance ( J:249037 )

reproductive system

reproductive system phenotype ( J:249037 )

N • females are fertile

N • males exhibit normal size of seminal vesicles and numbers of Leydig cells and Sertoli cells at 2 months of age

abnormal acrosome morphology ( J:249037 )

♂ • acrosomes are distorted or detached

abnormal acrosome assembly ( J:249037 )

♂ • acrosomes are irregularly shaped

detached acrosome ( J:249037 )

♂

abnormal spermatid morphology ( J:249037 )

♂ • at 2 months of age, the number of spermatids per tubule is significantly reduced at each stage of the seminiferous epithelium cycle (I to XII) and at each step of spermatid development (1 to 16)

♂ • both elongating and elongated spermatids show malformed nuclei/head shapes

abnormal manchette assembly ( J:249037 )

♂ • microtubule bundles of the manchette skirt are unevenly distributed, with a shaggy appearance

ectopic manchette ( J:249037 )

♂ • in most spermatids, the manchette has lost its perinuclear symmetrical distribution and is dislocated

decreased male germ cell number ( J:249037 )

♂ • spermatid number is reduced at 2 months of age

♂ • however, numbers of spermatogonia and spermatocytes are normal

azoospermia ( J:249037 )

♂ • no mature spermatozoa are found in the seminiferous tubules and epididymides at 2 months of age

abnormal seminiferous tubule morphology ( J:249037 )

♂ • lumens of the seminiferous tubules contain sloughed late steps of abnormal spermatids

abnormal seminiferous tubule epithelium morphology ( J:249037 )

♂ • seminiferous tubule epithelium contains disorganized elongated spermatids with deformed nuclei

♂ • however, Sertoli cell numbers and integrity of the blood-testis barrier are normal

small seminiferous tubules ( J:249037 )

♂ • seminiferous tubules diameters are significantly reduced at 2 months of age

small testis ( J:249037 )

♂ • testes size is markedly smaller at 2 months of age

decreased testis weight ( J:249037 )

♂ • ratio of testis/body weight is significantly reduced at 2 months of age

abnormal testis physiology ( J:249037 )

♂ • at 1 month of age, testes show altered expression of several adhesion and associated proteins, suggesting that the adhesion integrity of the adlumenal germ epithelium is affected

arrest of spermiogenesis ( J:249037 )

♂ • spermatid numbers are markedly reduced at each stage of the seminiferous tubule cycle, with a more severe reduction observed at later steps of spermatid development

♂ • round spermatids fail to develop into elongated spermatids

♂ • multiple malformed elongating and elongated spermatids are observed, with abnormal formation and detachment of acrosomes, misshapen nuclei, ectopic manchettes, and cytoplasmic retention

abnormal epididymis morphology ( J:249037 )

♂ • only a few exfoliated germ cells, but no mature spermatozoa, are found in the lumens of epididymal ducts at 2 months of age

small epididymis ( J:249037 )

♂ • epididymis size is markedly smaller at 2 months of age

male infertility ( J:249037 )

♂ • adult males are sterile

cellular

abnormal acrosome morphology ( J:249037 )

♂ • acrosomes are distorted or detached

abnormal acrosome assembly ( J:249037 )

♂ • acrosomes are irregularly shaped

detached acrosome ( J:249037 )

♂

abnormal spermatid morphology ( J:249037 )

♂ • at 2 months of age, the number of spermatids per tubule is significantly reduced at each stage of the seminiferous epithelium cycle (I to XII) and at each step of spermatid development (1 to 16)

♂ • both elongating and elongated spermatids show malformed nuclei/head shapes

abnormal manchette assembly ( J:249037 )

♂ • microtubule bundles of the manchette skirt are unevenly distributed, with a shaggy appearance

ectopic manchette ( J:249037 )

♂ • in most spermatids, the manchette has lost its perinuclear symmetrical distribution and is dislocated

decreased male germ cell number ( J:249037 )

♂ • spermatid number is reduced at 2 months of age

♂ • however, numbers of spermatogonia and spermatocytes are normal

azoospermia ( J:249037 )

♂ • no mature spermatozoa are found in the seminiferous tubules and epididymides at 2 months of age

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:249037 )

♂ • lumens of the seminiferous tubules contain sloughed late steps of abnormal spermatids

abnormal seminiferous tubule epithelium morphology ( J:249037 )

♂ • seminiferous tubule epithelium contains disorganized elongated spermatids with deformed nuclei

♂ • however, Sertoli cell numbers and integrity of the blood-testis barrier are normal

small seminiferous tubules ( J:249037 )

♂ • seminiferous tubules diameters are significantly reduced at 2 months of age

small testis ( J:249037 )

♂ • testes size is markedly smaller at 2 months of age

decreased testis weight ( J:249037 )

♂ • ratio of testis/body weight is significantly reduced at 2 months of age

abnormal testis physiology ( J:249037 )

♂ • at 1 month of age, testes show altered expression of several adhesion and associated proteins, suggesting that the adhesion integrity of the adlumenal germ epithelium is affected

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:249037 )

♂N • males have normal serum luteinizing hormone, follicle-stimulating hormone, and testosterone levels at 2 months of age