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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Plekha5Tg(AMH-cre)1Flor
transgene insertion 1, Florian Guillou
MGI:2450300
Summary 21 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Plekha5Tg(AMH-cre)1Flor/Plekha5Tg(AMH-cre)1Flor involves: C57BL/6 * C57BL/6J * SJL MGI:5446814
ht2
 		Plekha5Tg(AMH-cre)1Flor/Plekha5+ involves: C57BL/6 * C57BL/6J * SJL MGI:5446816
ht3
 		Plekha5Tg(AMH-cre)1Flor/Plekha5+ involves: C57BL/6 * SJL MGI:4431085
cn4
 		Aldh1a1tm1Gdu/Aldh1a1tm1Gdu
Aldh1a2tm1.1Mbp/Aldh1a2tm1.2Mbp
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129 * C57BL/6 * SJL MGI:7327644
cn5
 		Ddb1tm1Spg/Ddb1tm1Spg
Plekha5Tg(AMH-cre)1Flor/0 		involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:6448362
cn6
 		Gja1tm1Kwi/Gja1tm1Kwi
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:4366524
cn7
 		Pex5tm1Pec/Pex5tm1Pec
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S1/Sv * 129X1/SvJ MGI:3851809
cn8
 		Artm1Verh/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S1/Sv * 129X1/SvJ * Black Swiss * C57BL/6 MGI:3036125
cn9
 		Ptpn11tm1Gsf/Ptpn11tm1Gsf
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:7281502
cn10
 		Tsc22d3tm1.1Hum/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S1/SvImJ * C57BL/6N * SJL/J MGI:5700198
cn11
 		Cyp26b1tm1Ptk/Cyp26b1tm1Ptk
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S2/SvPas * C57BL/6 * SJL MGI:4415047
cn12
 		Trim28tm1.1Ipc/Trim28tm1.1Ipc
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S2/SvPas * C57BL/6 * SJL MGI:4948089
cn13
 		Trim28tm1Fca/Trim28tm1.1Ipc
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S2/SvPas * C57BL/6 * SJL MGI:4948087
cn14
 		Plekha5Tg(AMH-cre)1Flor/Plekha5+
Wt1tm1Jae/Wt1tm2Vih 		involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * SJL MGI:3690050
cn15
 		Artm1Chc/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129S/SvEv * C57BL/6 * SJL MGI:3773622
cn16
 		Dicer1tm1Bdh/Dicer1tm1Bdh
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129/Sv * C57BL/6 * SJL MGI:4360936
cn17
 		Artm1Jdz/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Tg(Abpa-cre)1Cmal/0 		involves: 129X1/SvJ * C57BL/6 * DBA/2 * SJL MGI:4431084
cn18
 		Artm1Jdz/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5Tg(AMH-cre)1Flor 		involves: 129X1/SvJ * C57BL/6 * SJL MGI:4431166
cn19
 		Artm1Jdz/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129X1/SvJ * C57BL/6 * SJL MGI:4431116
cn20
 		Klf4tm1Khk/Klf4tm1Khk
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: C57BL/6 * SJL MGI:4365445
cn21
 		Mex3btm1.1Mbld/Mex3btm1.1Mbld
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: C57BL/6 * SJL MGI:5766943


Genotype
MGI:5446814
hm1
Allelic
Composition		 Plekha5Tg(AMH-cre)1Flor/Plekha5Tg(AMH-cre)1Flor
Genetic
Background		 involves: C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal Sertoli cell morphology ( J:189585 )
• Sertoli cells exhibit impaired peroxisome biogenesis and reactive oxygen species metabolism compared with wild-type cells

cellular
abnormal peroxisome physiology ( J:189585 )
• Sertoli cells exhibit impaired peroxisome biogenesis and reactive oxygen species metabolism compared with wild-type cells
oxidative stress ( J:189585 )
• as indicated by impaired lipid peroxidation in Sertoli cells

endocrine/exocrine glands
abnormal Sertoli cell morphology ( J:189585 )
• Sertoli cells exhibit impaired peroxisome biogenesis and reactive oxygen species metabolism compared with wild-type cells




Genotype
MGI:5446816
ht2
Allelic
Composition		 Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system

cellular




Genotype
MGI:4431085
ht3
Allelic
Composition		 Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:157337 )
N
• testes have normal seminfierous tubules with a germinal layer epithelium identical to control testes




Genotype
MGI:7327644
cn4
Allelic
Composition		 Aldh1a1tm1Gdu/Aldh1a1tm1Gdu
Aldh1a2tm1.1Mbp/Aldh1a2tm1.2Mbp
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aldh1a1tm1Gdu mutation (1 available); any Aldh1a1 mutation (37 available)
Aldh1a2tm1.1Mbp mutation (0 available); any Aldh1a2 mutation (36 available)
Aldh1a2tm1.2Mbp mutation (0 available); any Aldh1a2 mutation (36 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal spermatogenesis ( J:324715 )
• block at the progression at the conversion of A spermatogonia to A1
• however, injection with retinoic acid restored spermatogenesis

endocrine/exocrine glands

cellular




Genotype
MGI:6448362
cn5
Allelic
Composition		 Ddb1tm1Spg/Ddb1tm1Spg
Plekha5Tg(AMH-cre)1Flor/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ddb1tm1Spg mutation (0 available); any Ddb1 mutation (33 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
oligozoospermia ( J:291677 )
• reduced sperm count in epididymis at age 10 weeks
abnormal seminiferous tubule morphology ( J:291677 )
• reduced number at birth and age P2
• some vacuolated tubules at age 10 weeks
decreased Sertoli cell number ( J:291677 )
• normal in E18 embryos
• at birth
ectopic Sertoli cells ( J:291677 )
• normal in E18 embryos
• some cells found in tubule lumen at birth
enlarged seminiferous tubules ( J:291677 )
• at birth and age P2
• normal size at age P14 and in adult mice
abnormal testis cord formation ( J:291677 )
• enlarged at birth and age P2
• normal in E14 and E18 embryos
small testis ( J:291677 )
• at age P14, P35 and 10 weeks

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:291677 )
• reduced number at birth and age P2
• some vacuolated tubules at age 10 weeks
decreased Sertoli cell number ( J:291677 )
• normal in E18 embryos
• at birth
ectopic Sertoli cells ( J:291677 )
• some cells found in tubule lumen at birth
• normal in E18 embryos
enlarged seminiferous tubules ( J:291677 )
• at birth and age P2
• normal size at age P14 and in adult mice
abnormal testis cord formation ( J:291677 )
• enlarged at birth and age P2
• normal in E14 and E18 embryos
small testis ( J:291677 )
• at age P14, P35 and 10 weeks

cellular
oligozoospermia ( J:291677 )
• reduced sperm count in epididymis at age 10 weeks




Genotype
MGI:4366524
cn6
Allelic
Composition		 Gja1tm1Kwi/Gja1tm1Kwi
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kwi mutation (1 available); any Gja1 mutation (59 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:122838 )
N
• male mutants display normal testicular descent and genital tract development relative to control littermates
abnormal spermatid morphology ( J:122838 )
• adult male mutants show loss and/or reduction of round or elongated spermatids
abnormal spermatogonia morphology ( J:122838 )
• adult male mutants show a significant reduction in the mean number of spermatogonia per seminiferous tubule relative to control littermates
decreased male germ cell number ( J:122838 )
• at P30, P60, P90, and P120, male mutants exhibit significantly reduced germ cell (spermatogonia) counts relative to control littermates
azoospermia ( J:122838 )
• no sperm are detected in the cauda epididymidis of mutant males
abnormal Sertoli cell morphology ( J:122838 )
• most mutant Sertoli cells display immature or aberrant features, including rounded nuclei, and absence of tubular lumina and cytoplasmic vacuoles
• no mitotic figures are observed
increased Sertoli cell number ( J:122838 )
• at P30, P60, P90, and P120, male mutants exhibit a significant increase in the mean number of Sertoli cells per seminiferous tubule relative to control littermates
small seminiferous tubules ( J:122838 )
• adult male mutants (P170) show smaller tubules with Sertoli cell (SC)-only syndrome and intratubular SC clusters
increased Leydig cell number ( J:122838 )
• a hyperplasia of interstitial Leydig cells is observed
small testis ( J:122838 )
• mutant testes are significantly smaller than those of control littermates
decreased testis weight ( J:122838 )
• adult male mutants (P60 to P120) show a drastic reduction in testis weight and relative testis weight (ratio between the weight of both testes to body weight) compared to control littermates
arrest of spermatogenesis ( J:122838 )
• 95% of mutant seminiferous tubules exhibit an arrest of spermatogenesis at the level of spermatogonia
• however, in 10 of 15 mutant males, ~5% of tubules exhibit qualitative normal spermatogenesis and few elongated spermatids
male infertility ( J:122838 )
• no pups are produced when mutant males are mated with wild-type females, despite normal sexual behavior and presence of vaginal plugs

endocrine/exocrine glands
abnormal Sertoli cell morphology ( J:122838 )
• most mutant Sertoli cells display immature or aberrant features, including rounded nuclei, and absence of tubular lumina and cytoplasmic vacuoles
• no mitotic figures are observed
increased Sertoli cell number ( J:122838 )
• at P30, P60, P90, and P120, male mutants exhibit a significant increase in the mean number of Sertoli cells per seminiferous tubule relative to control littermates
small seminiferous tubules ( J:122838 )
• adult male mutants (P170) show smaller tubules with Sertoli cell (SC)-only syndrome and intratubular SC clusters
increased Leydig cell number ( J:122838 )
• a hyperplasia of interstitial Leydig cells is observed
small testis ( J:122838 )
• mutant testes are significantly smaller than those of control littermates
decreased testis weight ( J:122838 )
• adult male mutants (P60 to P120) show a drastic reduction in testis weight and relative testis weight (ratio between the weight of both testes to body weight) compared to control littermates

cellular
abnormal spermatid morphology ( J:122838 )
• adult male mutants show loss and/or reduction of round or elongated spermatids
abnormal spermatogonia morphology ( J:122838 )
• adult male mutants show a significant reduction in the mean number of spermatogonia per seminiferous tubule relative to control littermates
decreased male germ cell number ( J:122838 )
• at P30, P60, P90, and P120, male mutants exhibit significantly reduced germ cell (spermatogonia) counts relative to control littermates
azoospermia ( J:122838 )
• no sperm are detected in the cauda epididymidis of mutant males




Genotype
MGI:3851809
cn7
Allelic
Composition		 Pex5tm1Pec/Pex5tm1Pec
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex5tm1Pec mutation (2 available); any Pex5 mutation (29 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal seminiferous tubule morphology ( J:108368 )
• large numbers of lipid drops present at 10 days and 7 weeks
seminiferous tubule degeneration ( J:108368 )
• spermatozoa still present at 7 weeks
• progressive degeneration of seminiferous tubules from 9-11 weeks
decreased testis weight ( J:108368 )
• testicular weight 30-40% of normal controls at 14 weeks
male infertility ( J:108368 )
• 6-13 week old males mate but fail to sire offspring

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:108368 )
• large numbers of lipid drops present at 10 days and 7 weeks
seminiferous tubule degeneration ( J:108368 )
• spermatozoa still present at 7 weeks
• progressive degeneration of seminiferous tubules from 9-11 weeks
decreased testis weight ( J:108368 )
• testicular weight 30-40% of normal controls at 14 weeks




Genotype
MGI:3036125
cn8
Allelic
Composition		 Artm1Verh/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * Black Swiss * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Artm1Verh mutation (1 available); any Ar mutation (22 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal spermatid morphology ( J:88169 )
• at P50, numbers of round spermatids were reduced to only 3% of wild-type numbers
• the few round spermatids that formed appeared abnormal and failed to survive beyond stages VII-VIII
• no elongated spermatids were detected
abnormal spermatocyte morphology ( J:88169 )
• at P50, numbers of diplotene and secondary spermatocytes were reduced to 64% of wild-type numbers
decreased male germ cell number ( J:88169 )
• reduced germ cell numbers associated with increased apoptosis
azoospermia ( J:88169 )
• absence of elongated spermatids
increased male germ cell apoptosis ( J:88169 )
• at P50, reduced male germ cell numbers were associated with a 4-5-fold increase in germ cell apoptosis
small seminiferous tubules ( J:88169 )
• significant reduction in seminiferous tubule diameter at P50
• however, numbers of Sertoli cells remained essentially normal based on measurement of nuclear volume per testis
abnormal Leydig cell morphology ( J:100799 )
• as expected, Leydig cell cytoplasmic volume was relatively constant up to P20 and more than doubled between P20 and P50; however, an additional 32% increase occurred between P50 and P140, such that at P140 cytoplasmic volume was 23% higher than that in controls
• at P50, the volumes of mitochondria and lipid droplets were 2-fold higher than in controls; however, only the increase in lipid droplets was statistically significant
decreased Leydig cell number ( J:100799 )
• although Leydig cell number was normal at P12, it was reduced by >40% at later ages (P20, P50, and P140)
• notably, the temporal pattern of change in LC number was generally similar to that of controls
• at P50 and P140, LC number was significantly higher than in Artm1.1Verh males
• immunohistochemistry and quantitative PCR for LC-specific markers revealed that steroidogenic function per LC was probably increased
small testis ( J:88169 )
• testes were properly descended but small in size
• normal development of epididymis, vas deferens, coagulating gland, seminal gland, and prostate gland
• normal development of Leydig cells and peritubular myoid cells
decreased testis weight ( J:88169 , J:100799 )
• at P50, testis weight was reduced to 28.4% of wild-type weight (J:88169)
• although normal at P12, testis weight was reduced to 53% of control value at P20 and to 25-30% of control value at P50 and P140 (J:100799)
arrest of spermatogenesis ( J:88169 )
• spermatogenic arrest at the late spermatocyte/spermatid stage
arrest of male meiosis ( J:88169 )
• normal entry into meiosis, but progressive loss of pachytene primary spermatocytes between stages VI and XII
decreased epididymis weight ( J:88169 )
• at P50, epididymis weight was reduced by 30% relative to wild-type

homeostasis/metabolism
increased circulating follicle stimulating hormone level ( J:88169 )
• at P50, serum FSH leves were elevated by 34% relative to wild-type
• in contrast, serum levels of testosterone and luteinizing hormone remained normal

endocrine/exocrine glands
small seminiferous tubules ( J:88169 )
• significant reduction in seminiferous tubule diameter at P50
• however, numbers of Sertoli cells remained essentially normal based on measurement of nuclear volume per testis
abnormal Leydig cell morphology ( J:100799 )
• as expected, Leydig cell cytoplasmic volume was relatively constant up to P20 and more than doubled between P20 and P50; however, an additional 32% increase occurred between P50 and P140, such that at P140 cytoplasmic volume was 23% higher than that in controls
• at P50, the volumes of mitochondria and lipid droplets were 2-fold higher than in controls; however, only the increase in lipid droplets was statistically significant
decreased Leydig cell number ( J:100799 )
• although Leydig cell number was normal at P12, it was reduced by >40% at later ages (P20, P50, and P140)
• notably, the temporal pattern of change in LC number was generally similar to that of controls
• at P50 and P140, LC number was significantly higher than in Artm1.1Verh males
• immunohistochemistry and quantitative PCR for LC-specific markers revealed that steroidogenic function per LC was probably increased
small testis ( J:88169 )
• testes were properly descended but small in size
• normal development of epididymis, vas deferens, coagulating gland, seminal gland, and prostate gland
• normal development of Leydig cells and peritubular myoid cells
decreased testis weight ( J:88169 , J:100799 )
• at P50, testis weight was reduced to 28.4% of wild-type weight (J:88169)
• although normal at P12, testis weight was reduced to 53% of control value at P20 and to 25-30% of control value at P50 and P140 (J:100799)

growth/size/body
growth/size/body region phenotype ( J:88169 )
N
• growth curves of hemizygous mutant males were similar to those of wild-type males

cellular
abnormal spermatid morphology ( J:88169 )
• at P50, numbers of round spermatids were reduced to only 3% of wild-type numbers
• the few round spermatids that formed appeared abnormal and failed to survive beyond stages VII-VIII
• no elongated spermatids were detected
abnormal spermatocyte morphology ( J:88169 )
• at P50, numbers of diplotene and secondary spermatocytes were reduced to 64% of wild-type numbers
decreased male germ cell number ( J:88169 )
• reduced germ cell numbers associated with increased apoptosis
azoospermia ( J:88169 )
• absence of elongated spermatids
increased male germ cell apoptosis ( J:88169 )
• at P50, reduced male germ cell numbers were associated with a 4-5-fold increase in germ cell apoptosis




Genotype
MGI:7281502
cn9
Allelic
Composition		 Ptpn11tm1Gsf/Ptpn11tm1Gsf
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
Ptpn11tm1Gsf mutation (0 available); any Ptpn11 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal spermatocyte morphology ( J:250152 )
• number of SYCP3+ spermatocytes is significantly increased at 1 week but significantly decreased at 3 weeks of age
abnormal spermatogonia morphology ( J:250152 )
• number of PLZF+ undifferentiated spermatogonial stem cells (SSCs) is normal at 1 week of age but significantly reduced at 2-, 3- and 4 weeks of age
• unlike in controls where Kit (a differentiated SSC marker ) is first expressed at ~P6 and reaches a high level at 2 weeks of age, strong Kit signals are noted at P3 and at 1 week but are degraded by 2 weeks, suggesting untimely and excessive SSC differentiation
• number of STRA8+ differentiated SSCs is significantly increased at 1 week but gradually reduced in the disrupted tubule starting at 3 weeks of age
• when wild-type SSCs are seeded on primary Sertoli cells isolated from 2-week-old mutant males, clone formation ability of SSCs is impaired
• adenovirus infection with a constitutively active Shp2 mutant rescues the capacity of wild-type SSCs to form clones
decreased male germ cell number ( J:250152 )
• testes show gradual loss of the germ cells resulting in Sertoli cell-only phenotype
• ~31% of seminiferous tubules have lost all of the germ cells by 16 weeks of age
azoospermia ( J:250152 )
• no mature sperm are found in the edidymides at 8 weeks of age
increased male germ cell apoptosis ( J:250152 )
• at 4 weeks of age, testes contain significantly more TUNEL+ apoptotic cells than control testes
• however, the number of WT1+ Sertoli cells is normal
abnormal seminiferous tubule epithelium morphology ( J:250152 )
• at 3 weeks of age, the number of cells in the seminiferous tubule epithelium is decreased and cells exhibit a disordered arrangement
abnormal Sertoli cell barrier morphology ( J:250152 )
• at 2 weeks of age, junction proteins critical for original BTB assembly, including GJA1 (connexin 43), CLDN11 (claudin 11) and F11R (aka JAMA), show aberrant localization and are dispersed over the seminiferous tubules, instead of being arranged in a regular cycle between the basal and adluminal compartments as in control tubules
• CLDN11 and GJA1 protein expression is significantly increased whereas F11R expression is significantly reduced
• when primary Sertoli cells from 2-wk-old males are cultured in vitro, transepithelial electrical resistance values of the Sertoli cell monolayer fail to increase with cell growth and, unlike in control cells, do not reach a peak level on day 3, indicating impaired cell junctions
• adenovirus infection with a constitutively active Shp2 mutant rescues the tight junction defects and restores electrical resistance peak level on day 3
small seminiferous tubules ( J:250152 )
• seminiferous tubules become significantly thinner by 16 weeks of age
seminiferous tubule degeneration ( J:250152 )
• at 4 weeks of age, 84% of seminiferous tubules appear damaged and show cell loss, vacuolization, a chaotic arrangement of germ cells, and absence of elongated sperm
• by 16 weeks of age, tubules are severely destroyed; ~31% of tubules have lost all of the germ cells, become significantly thinner and contain only Sertoli cells
increased Leydig cell number ( J:250152 )
• Leydig cell hyperplasia is observed by 16 weeks of age
decreased testis weight ( J:250152 )
• average weight of testes is significantly lower than in controls males at 2-, 3- and 4 weeks of age
• however, body weight is normal
abnormal Sertoli cell barrier function ( J:250152 )
• at 2 weeks of age, an in vivo biotin tracing assay showed that the tracer dye penetrates into the adluminal compartment in 77% of seminiferous tubules, suggesting increased BTB permeability
arrest of spermatogenesis ( J:250152 )
• the initial stage of spermatogenesis is blocked, and germ cells are depleted due to excessive spermatogonial stem cell (SSC) differentiation
male infertility ( J:250152 )
• when mated with wild-type females, adult male mice do not produce any progeny despite normal vaginal plug formation

cellular
abnormal spermatocyte morphology ( J:250152 )
• number of SYCP3+ spermatocytes is significantly increased at 1 week but significantly decreased at 3 weeks of age
abnormal spermatogonia morphology ( J:250152 )
• number of PLZF+ undifferentiated spermatogonial stem cells (SSCs) is normal at 1 week of age but significantly reduced at 2-, 3- and 4 weeks of age
• unlike in controls where Kit (a differentiated SSC marker ) is first expressed at ~P6 and reaches a high level at 2 weeks of age, strong Kit signals are noted at P3 and at 1 week but are degraded by 2 weeks, suggesting untimely and excessive SSC differentiation
• number of STRA8+ differentiated SSCs is significantly increased at 1 week but gradually reduced in the disrupted tubule starting at 3 weeks of age
• when wild-type SSCs are seeded on primary Sertoli cells isolated from 2-week-old mutant males, clone formation ability of SSCs is impaired
• adenovirus infection with a constitutively active Shp2 mutant rescues the capacity of wild-type SSCs to form clones
decreased male germ cell number ( J:250152 )
• testes show gradual loss of the germ cells resulting in Sertoli cell-only phenotype
• ~31% of seminiferous tubules have lost all of the germ cells by 16 weeks of age
azoospermia ( J:250152 )
• no mature sperm are found in the edidymides at 8 weeks of age
increased male germ cell apoptosis ( J:250152 )
• at 4 weeks of age, testes contain significantly more TUNEL+ apoptotic cells than control testes
• however, the number of WT1+ Sertoli cells is normal

endocrine/exocrine glands
abnormal seminiferous tubule epithelium morphology ( J:250152 )
• at 3 weeks of age, the number of cells in the seminiferous tubule epithelium is decreased and cells exhibit a disordered arrangement
abnormal Sertoli cell barrier morphology ( J:250152 )
• at 2 weeks of age, junction proteins critical for original BTB assembly, including GJA1 (connexin 43), CLDN11 (claudin 11) and F11R (aka JAMA), show aberrant localization and are dispersed over the seminiferous tubules, instead of being arranged in a regular cycle between the basal and adluminal compartments as in control tubules
• CLDN11 and GJA1 protein expression is significantly increased whereas F11R expression is significantly reduced
• when primary Sertoli cells from 2-wk-old males are cultured in vitro, transepithelial electrical resistance values of the Sertoli cell monolayer fail to increase with cell growth and, unlike in control cells, do not reach a peak level on day 3, indicating impaired cell junctions
• adenovirus infection with a constitutively active Shp2 mutant rescues the tight junction defects and restores electrical resistance peak level on day 3
small seminiferous tubules ( J:250152 )
• seminiferous tubules become significantly thinner by 16 weeks of age
seminiferous tubule degeneration ( J:250152 )
• at 4 weeks of age, 84% of seminiferous tubules appear damaged and show cell loss, vacuolization, a chaotic arrangement of germ cells, and absence of elongated sperm
• by 16 weeks of age, tubules are severely destroyed; ~31% of tubules have lost all of the germ cells, become significantly thinner and contain only Sertoli cells
increased Leydig cell number ( J:250152 )
• Leydig cell hyperplasia is observed by 16 weeks of age
decreased testis weight ( J:250152 )
• average weight of testes is significantly lower than in controls males at 2-, 3- and 4 weeks of age
• however, body weight is normal
abnormal Sertoli cell barrier function ( J:250152 )
• at 2 weeks of age, an in vivo biotin tracing assay showed that the tracer dye penetrates into the adluminal compartment in 77% of seminiferous tubules, suggesting increased BTB permeability




Genotype
MGI:5700198
cn10
Allelic
Composition		 Tsc22d3tm1.1Hum/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S1/SvImJ * C57BL/6N * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
Tsc22d3tm1.1Hum mutation (0 available); any Tsc22d3 mutation (5 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:226675 )
N
• deletion restricted to Sertoli cells leaves males viable and fertile with normal testicular histology, testis size, and sperm production




Genotype
MGI:4415047
cn11
Allelic
Composition		 Cyp26b1tm1Ptk/Cyp26b1tm1Ptk
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cyp26b1tm1Ptk mutation (0 available); any Cyp26b1 mutation (35 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Loss of germ cells in adult Cyp26b1tm1Ptk/Cyp26b1tm1Ptk Plekha5Tg(AMH-cre)1Flor/0 animals

reproductive system
decreased male germ cell number ( J:154048 )
• fewer germ cells at postnatal day 0 (P0)
• some seminiferous tubules are devoid of germ cells at P0
abnormal seminiferous tubule morphology ( J:154048 )
• some abnormal seminiferous tubules devoid of germ cells in 3-month-old testes
• other tubules contain cells from all stages of spermatogenesis
• numbers of Sertoli cells are unchanged
small seminiferous tubules ( J:154048 )
• reduced diameter of seminiferous tubules lacking germ cells
increased Leydig cell number ( J:154048 )
• Leydig cell hyperplasia outside the seminiferous tubules lacking germ cells
small testis ( J:154048 )
• smaller testes
abnormal spermatogenesis ( J:154048 )
• some germ cells exit from G0 and re-enter mitosis in E16.5
• 22% of the germ cells are Ki67-positive in the testes in E16.5
• no significant difference in the overall number of Ki67-stained somatic cells
abnormal male meiosis ( J:154048 )
• meiotic germ cells are detected in E16.5
• SCP3-positive cells are detected in a subset of tubules

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:154048 )
• some abnormal seminiferous tubules devoid of germ cells in 3-month-old testes
• other tubules contain cells from all stages of spermatogenesis
• numbers of Sertoli cells are unchanged
small seminiferous tubules ( J:154048 )
• reduced diameter of seminiferous tubules lacking germ cells
increased Leydig cell number ( J:154048 )
• Leydig cell hyperplasia outside the seminiferous tubules lacking germ cells
small testis ( J:154048 )
• smaller testes

cellular
decreased male germ cell number ( J:154048 )
• fewer germ cells at postnatal day 0 (P0)
• some seminiferous tubules are devoid of germ cells at P0




Genotype
MGI:4948089
cn12
Allelic
Composition		 Trim28tm1.1Ipc/Trim28tm1.1Ipc
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
Trim28tm1.1Ipc mutation (1 available); any Trim28 mutation (33 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:170392 )
N
• no defects are detected in Sertoli cell or spermatogonia proliferation at P5
abnormal spermatid morphology ( J:170392 )
• decrease in the number of mature spermatids
• spermatids fail to align at the luminal side of the seminiferous tubules at stage VII of the epithelial cycle
decreased male germ cell number ( J:170392 )
• germ cell depletion
oligozoospermia ( J:170392 )
• the caudal epididymis contains few spermatozoa
decreased testis weight ( J:170392 )
• at 7 weeks and 12 months of age
testis degeneration ( J:170392 )
• testicular degeneration
abnormal spermiation ( J:170392 )
• mature spermatids are retained within the seminiferous epithelium
decreased litter size ( J:170392 )
• sire smaller litters when crossed to wild-type females
reduced male fertility ( J:170392 )
• sire fewer and smaller litters when crossed to wild-type females

endocrine/exocrine glands
decreased testis weight ( J:170392 )
• at 7 weeks and 12 months of age
testis degeneration ( J:170392 )
• testicular degeneration

cellular
abnormal spermatid morphology ( J:170392 )
• decrease in the number of mature spermatids
• spermatids fail to align at the luminal side of the seminiferous tubules at stage VII of the epithelial cycle
decreased male germ cell number ( J:170392 )
• germ cell depletion
oligozoospermia ( J:170392 )
• the caudal epididymis contains few spermatozoa




Genotype
MGI:4948087
cn13
Allelic
Composition		 Trim28tm1Fca/Trim28tm1.1Ipc
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
Trim28tm1.1Ipc mutation (1 available); any Trim28 mutation (33 available)
Trim28tm1Fca mutation (0 available); any Trim28 mutation (33 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:170392 )
N
• testes morphology is indistinguishable from controls at 7 weeks of age




Genotype
MGI:3690050
cn14
Allelic
Composition		 Plekha5Tg(AMH-cre)1Flor/Plekha5+
Wt1tm1Jae/Wt1tm2Vih
Genetic
Background		 involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
Wt1tm1Jae mutation (3 available); any Wt1 mutation (34 available)
Wt1tm2Vih mutation (1 available); any Wt1 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal male reproductive system morphology ( J:111787 )
• in addition to reduced testes size, remainder of reproductive tract is hypoplastic
• histological analysis of proximal portion of male reproductive tract shows structures with coiled morphology and folded epithelium structure of oviduct
abnormal testis morphology ( J:111787 )
• at E13.5, male testicular development, including Sertoli cell location and numbers appears normal, but from E15.5 to P7, development is abnormal
abnormal seminiferous tubule morphology ( J:111787 )
• testes completely lack normal tubular architecture of controls and consist primarily of sheets of eosinophilic cells
• at E15.5, only a few tubule-like structures are observed
abnormal Leydig cell morphology ( J:111787 )
• testes contain sheets of eosinophilic cells identified histologically as Leydig cells; these cells are observed in dense clusters interspersed with regions of fibroblast-like cells
small testis ( J:111787 )
• in 7 week old males, testes size is ~10% of control wild-type littermates
abnormal secondary sex determination ( J:111787 )
• males have a uterus in addition to vas deferens, epididymis, and seminal vesicles
• histological analysis of proximal portion of male reproductive tract shows structures with coiled morphology and folded epithelium structure of oviduct
male infertility ( J:111787 )
• based on aberrant structure of male testes, males are predicted to be sterile

endocrine/exocrine glands
abnormal testis morphology ( J:111787 )
• at E13.5, male testicular development, including Sertoli cell location and numbers appears normal, but from E15.5 to P7, development is abnormal
abnormal seminiferous tubule morphology ( J:111787 )
• testes completely lack normal tubular architecture of controls and consist primarily of sheets of eosinophilic cells
• at E15.5, only a few tubule-like structures are observed
abnormal Leydig cell morphology ( J:111787 )
• testes contain sheets of eosinophilic cells identified histologically as Leydig cells; these cells are observed in dense clusters interspersed with regions of fibroblast-like cells
small testis ( J:111787 )
• in 7 week old males, testes size is ~10% of control wild-type littermates




Genotype
MGI:3773622
cn15
Allelic
Composition		 Artm1Chc/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129S/SvEv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Artm1Chc mutation (0 available); any Ar mutation (22 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
decreased male germ cell number ( J:89886 )
• mutant testes have fewer proliferating spermatogonia relative to wild-type
• there are increased numbers of apoptotic pachytene and metaphase spermatocytes compared to wild-type
abnormal seminiferous tubule morphology ( J:89886 , J:118270 )
• tubules display poor germ cell differentiation, and reduced cellularity, with most germ cell differentiation ceasing at the diplotene stage (J:89886)
• mutant testes show less active cell proliferation per tubule, and fewer proliferative tubules per testis (J:89886)
• no lumen is observed (J:118270)
small testis ( J:118270 )
• testes are normally descended but only attain 23.4% of that in wild-type males
decreased testis weight ( J:89886 )
• size of testes is reduced compared to wild-type males, with weights only one-third of wild-type testes
abnormal meiosis ( J:118270 )
• testes show a 3-fold increase in diploid cells, 2-fold increase in tetraploid cells and an 11-fold reduction in haploid cells
abnormal spermatogenesis ( J:89886 )
• mice have an increased number of tetraploid cells and a reduction in cells with a haploid DNA content
azoospermia ( J:89886 , J:118270 )
• analysis of epididymes detected only debris instead of normal, motile sperm as observed in wild-type males (J:89886)
• no live sperm are found in epididymis (J:118270)
arrest of male meiosis ( J:89886 , J:118270 )
• diploid to tetraploid germ cell ratio indicates spermatogenic arrest before the first meiosis (J:89886)
• little evidence of meiosis is observed, with no spermatids or spermatozoa, elongated or round detected in the testes (J:89886)
• germ cell development stops at pachytene/diplotene primary spermatocyte stage of the first meiosis division (J:118270)
male infertility ( J:89886 , J:118270 )
• 8-week old males fail to impregnate wild-type females in 3 successive 2-week pairings; vaginal plugs were detected but no pregnancies resulted (J:89886)
• in three successive 2-week pairings with wild-type females, 14-week old males fail to impregnated the females; vaginal plugs were detected in females after mating (J:118270)

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:89886 , J:118270 )
• tubules display poor germ cell differentiation, and reduced cellularity, with most germ cell differentiation ceasing at the diplotene stage (J:89886)
• mutant testes show less active cell proliferation per tubule, and fewer proliferative tubules per testis (J:89886)
• no lumen is observed (J:118270)
small testis ( J:118270 )
• testes are normally descended but only attain 23.4% of that in wild-type males
decreased testis weight ( J:89886 )
• size of testes is reduced compared to wild-type males, with weights only one-third of wild-type testes

homeostasis/metabolism
decreased circulating testosterone level ( J:89886 , J:118270 )
• mutant males have lower serum testosterone levels than wild-type males (J:89886)
• significantly decreased relative to wild-type males (J:118270)
increased circulating follicle stimulating hormone level ( J:89886 )
• levels are marginally (10%) increased compared to control males
increased circulating luteinizing hormone level ( J:89886 )
• LH levels are increased in serum compared to wild-type males

cellular
decreased male germ cell number ( J:89886 )
• mutant testes have fewer proliferating spermatogonia relative to wild-type
• there are increased numbers of apoptotic pachytene and metaphase spermatocytes compared to wild-type
azoospermia ( J:89886 , J:118270 )
• analysis of epididymes detected only debris instead of normal, motile sperm as observed in wild-type males (J:89886)
• no live sperm are found in epididymis (J:118270)




Genotype
MGI:4360936
cn16
Allelic
Composition		 Dicer1tm1Bdh/Dicer1tm1Bdh
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:145178 )
N
• adult males show no differences in mounting and copulatory activity or in testicular descent and masculinization of internal reproductive organs (seminal vesicles and prostate) relative to control littermates
abnormal male germ cell morphology ( J:145178 )
• at P60, numerous exfoliated germ cells are detected in the lumen of mutant epididymal ducts
decreased male germ cell number ( J:145178 )
• at P60, mutant male germ cells are severely disorganized and reduced in number
• by 6 months of age, the few remaining tubes are almost completely devoid of germ cells
azoospermia ( J:145178 )
• at P60, mutant males show complete absence of mature spermatozoa in testes and epididymal ducts
increased male germ cell apoptosis ( J:145178 )
• significant male germ cell apoptosis is noted at P15 and P21
• by P42, mutant male germ cells exhibit extensive apoptosis
increased Sertoli cell proliferation ( J:145178 )
• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation
abnormal seminiferous tubule epithelium morphology ( J:145178 )
• at P60, the mutant seminiferous epithelium appears disorganized
abnormal Sertoli cell morphology ( J:145178 )
• as early as P5, mutant males display Sertoli cell nuclear mislocalization with almost complete absence of lumen
• at P15, mutant Sertoli cell nuclei display an abnormal circular rather than flattened triangular shape
• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation
• significant Sertoli cell apoptosis is noted at P5; however, by P21, apoptotic cells are almost exclusively germ cells
• by 3 months of age, obvious defects in Sertoli cell cyto-architecture and polarity are observed
ectopic Sertoli cells ( J:145178 )
• as early as P5, mutant Sertoli cell nuclei are mislocalized in the center of seminiferous tubes instead of the periphery
small seminiferous tubules ( J:145178 )
• at P60, mutant seminiferous tubules are reduced in diameter and devoid of lumen
seminiferous tubule degeneration ( J:145178 )
• as early as P5, numerous pycnotic cells are detected within mutant tubes
• at P42, almost all mutant tubes have become severely vacuolized; however, a few less severely affected tubes display a lumen
• by 3 months of age, most seminiferous tubules have degenerated into Sertoli-cell-only tubes with a severely impaired Sertoli cell morphology
increased Leydig cell number ( J:145178 )
• Leydig cell hyperplasia is already noted at P5, persists throughout adulthood, and becomes massive by 6 months of age
• however, no significant differences in testicular testosterone levels are observed from P0 to P60
small testis ( J:145178 )
• at P15 and P60, mutant testes show a 80% and 90% reduction in size, respectively, relative to control testes
• by 6 months of age, mutant testis size is only 5% of that in control littermates
decreased testis weight ( J:145178 )
• at P60, mutant males show a 90% reduction in testis weight relative to control littermates
testis degeneration ( J:145178 )
• severe testicular degeneration is noted at P60 and worsens upon aging
• by 6 months of age, mutant testes have degenerated into a mass of interstitial cells containing rare remaining tubes
abnormal spermatogenesis ( J:145178 )
• at P60, mutant males show severe spermatogenic defects including vacuolization, Sertoli-cell-only tubes, tubes with spermatogenic arrest at an early post-meiotic stage, and disorganization of the seminiferous epithelium
abnormal spermatid morphology ( J:145178 )
• at P42, round spermatids are severely reduced in number while elongated spermatids are entirely absent in mutant testes
male infertility ( J:145178 )
• mutant males fail to produce any offspring during a 6-month mating period with wild-type C57BL/6J females

endocrine/exocrine glands
increased Sertoli cell proliferation ( J:145178 )
• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation
abnormal seminiferous tubule epithelium morphology ( J:145178 )
• at P60, the mutant seminiferous epithelium appears disorganized
abnormal Sertoli cell morphology ( J:145178 )
• as early as P5, mutant males display Sertoli cell nuclear mislocalization with almost complete absence of lumen
• at P15, mutant Sertoli cell nuclei display an abnormal circular rather than flattened triangular shape
• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation
• significant Sertoli cell apoptosis is noted at P5; however, by P21, apoptotic cells are almost exclusively germ cells
• by 3 months of age, obvious defects in Sertoli cell cyto-architecture and polarity are observed
ectopic Sertoli cells ( J:145178 )
• as early as P5, mutant Sertoli cell nuclei are mislocalized in the center of seminiferous tubes instead of the periphery
small seminiferous tubules ( J:145178 )
• at P60, mutant seminiferous tubules are reduced in diameter and devoid of lumen
seminiferous tubule degeneration ( J:145178 )
• as early as P5, numerous pycnotic cells are detected within mutant tubes
• at P42, almost all mutant tubes have become severely vacuolized; however, a few less severely affected tubes display a lumen
• by 3 months of age, most seminiferous tubules have degenerated into Sertoli-cell-only tubes with a severely impaired Sertoli cell morphology
increased Leydig cell number ( J:145178 )
• Leydig cell hyperplasia is already noted at P5, persists throughout adulthood, and becomes massive by 6 months of age
• however, no significant differences in testicular testosterone levels are observed from P0 to P60
small testis ( J:145178 )
• at P15 and P60, mutant testes show a 80% and 90% reduction in size, respectively, relative to control testes
• by 6 months of age, mutant testis size is only 5% of that in control littermates
decreased testis weight ( J:145178 )
• at P60, mutant males show a 90% reduction in testis weight relative to control littermates
testis degeneration ( J:145178 )
• severe testicular degeneration is noted at P60 and worsens upon aging
• by 6 months of age, mutant testes have degenerated into a mass of interstitial cells containing rare remaining tubes

cellular
abnormal male germ cell morphology ( J:145178 )
• at P60, numerous exfoliated germ cells are detected in the lumen of mutant epididymal ducts
abnormal spermatid morphology ( J:145178 )
• at P42, round spermatids are severely reduced in number while elongated spermatids are entirely absent in mutant testes
decreased male germ cell number ( J:145178 )
• at P60, mutant male germ cells are severely disorganized and reduced in number
• by 6 months of age, the few remaining tubes are almost completely devoid of germ cells
azoospermia ( J:145178 )
• at P60, mutant males show complete absence of mature spermatozoa in testes and epididymal ducts
increased male germ cell apoptosis ( J:145178 )
• significant male germ cell apoptosis is noted at P15 and P21
• by P42, mutant male germ cells exhibit extensive apoptosis
increased Sertoli cell proliferation ( J:145178 )
• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation




Genotype
MGI:4431084
cn17
Allelic
Composition		 Artm1Jdz/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Tg(Abpa-cre)1Cmal/0
Genetic
Background		 involves: 129X1/SvJ * C57BL/6 * DBA/2 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Artm1Jdz mutation (1 available); any Ar mutation (22 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
Tg(Abpa-cre)1Cmal mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
decreased testis weight ( J:157337 )
• at 9 weeks of age, testis weights are similar to those of homozygous Tg(AMH-cre)1Flor or homozygous Tg(Abpa-cre)1Cmal/ Artm1Jdz double mutants

endocrine/exocrine glands
decreased testis weight ( J:157337 )
• at 9 weeks of age, testis weights are similar to those of homozygous Tg(AMH-cre)1Flor or homozygous Tg(Abpa-cre)1Cmal/ Artm1Jdz double mutants




Genotype
MGI:4431166
cn18
Allelic
Composition		 Artm1Jdz/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5Tg(AMH-cre)1Flor
Genetic
Background		 involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Artm1Jdz mutation (1 available); any Ar mutation (22 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
small seminiferous tubules ( J:157337 )
• seminiferous tubules with smaller diameters are observed
decreased testis weight ( J:157337 )
• testis weights at 3 weeks are significantly lower (15.9 mg) than control males (24.9-27 mg)
arrest of spermatogenesis ( J:157337 )
• spermatogenic arrest predominantly at meiotic stage with no elongated spermatids is observed at 9 weeks

endocrine/exocrine glands
small seminiferous tubules ( J:157337 )
• seminiferous tubules with smaller diameters are observed
decreased testis weight ( J:157337 )
• testis weights at 3 weeks are significantly lower (15.9 mg) than control males (24.9-27 mg)




Genotype
MGI:4431116
cn19
Allelic
Composition		 Artm1Jdz/Y
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Artm1Jdz mutation (1 available); any Ar mutation (22 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
growth/size/body region phenotype ( J:157337 )
N
• total body weights of males are equivalent to wild-type males

reproductive system
small seminiferous tubules ( J:157337 )
• tubules with smaller diameters are observed at 9 weeks
• at 9 weeks total Sertoli cell numbers are same as in controls
abnormal Leydig cell morphology ( J:157337 )
• at 9 weeks, interstitial Leydig cells display hypertrophy and accumulation of lipid droplets
• adult Leydig cells are present in testes at 9 weeks
Leydig cell hypertrophy ( J:157337 )
• Leydig cells display hypertrophy at 9 weeks
decreased testis weight ( J:157337 )
• at 5 or 10 days, testis weights are normal, but testis weights at 3 weeks are significantly lower (15.9 mg) than control males (24.9-27 mg)
arrest of spermatogenesis ( J:157337 )
• spermatogenic arrest predominantly at meiotic stage with no elongated spermatids is observed at 9 weeks

endocrine/exocrine glands
small seminiferous tubules ( J:157337 )
• tubules with smaller diameters are observed at 9 weeks
• at 9 weeks total Sertoli cell numbers are same as in controls
abnormal Leydig cell morphology ( J:157337 )
• at 9 weeks, interstitial Leydig cells display hypertrophy and accumulation of lipid droplets
• adult Leydig cells are present in testes at 9 weeks
Leydig cell hypertrophy ( J:157337 )
• Leydig cells display hypertrophy at 9 weeks
decreased testis weight ( J:157337 )
• at 5 or 10 days, testis weights are normal, but testis weights at 3 weeks are significantly lower (15.9 mg) than control males (24.9-27 mg)




Genotype
MGI:4365445
cn20
Allelic
Composition		 Klf4tm1Khk/Klf4tm1Khk
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klf4tm1Khk mutation (1 available); any Klf4 mutation (24 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:132612 )
N
• mutant males show normal postnatal testis weights, with no significant differences in the ratio of testis weight to body weight or in Sertoli cell proliferation relative to control littermates
• notably, adult mutant males are fertile and yield litters of normal size and frequency relative to controls, despite reduced serum testosterone levels
abnormal seminiferous tubule epithelium morphology ( J:132612 )
• at P18, mutant tubules exhibit a disorganized germinal epithelium with numerous vacuoles and no lumen
• however, no differences with regard to vacuolization of the cytoplasm or (dis-) organization of the germinal epithelium are noted in adult mutant tubules relative to controls, indicating that the phenotype observed at P18 is transient
• moreover, no significant differences are observed between the % of TUNEL-positive mutant tubules vs control tubules
abnormal seminiferous tubule size ( J:132612 )
• whereas at P18 mutant tubules display a slightly, yet significantly increased diameter, at P20 mutant tubules exhibit a significantly reduced average diameter relative to control tubules
abnormal Sertoli cell development ( J:132612 )
• at P18, mutant Sertoli cells display a developmental delay in lumen formation with only 32% of mutant tubules exhibiting a lumen vs 75% of control tubules
• at P20, only 50% of mutant tubules display a lumen vs 87% of control tubules
abnormal testes secretion ( J:132612 )
• gene expression profiling revealed differential expression of genes known to play roles during vesicle transport and fusion or for maintenance of the differentiated cell state, suggesting impaired apical secretion of Sertoli cells

endocrine/exocrine glands
abnormal seminiferous tubule epithelium morphology ( J:132612 )
• at P18, mutant tubules exhibit a disorganized germinal epithelium with numerous vacuoles and no lumen
• however, no differences with regard to vacuolization of the cytoplasm or (dis-) organization of the germinal epithelium are noted in adult mutant tubules relative to controls, indicating that the phenotype observed at P18 is transient
• moreover, no significant differences are observed between the % of TUNEL-positive mutant tubules vs control tubules
abnormal seminiferous tubule size ( J:132612 )
• whereas at P18 mutant tubules display a slightly, yet significantly increased diameter, at P20 mutant tubules exhibit a significantly reduced average diameter relative to control tubules
abnormal Sertoli cell development ( J:132612 )
• at P18, mutant Sertoli cells display a developmental delay in lumen formation with only 32% of mutant tubules exhibiting a lumen vs 75% of control tubules
• at P20, only 50% of mutant tubules display a lumen vs 87% of control tubules
abnormal testes secretion ( J:132612 )
• gene expression profiling revealed differential expression of genes known to play roles during vesicle transport and fusion or for maintenance of the differentiated cell state, suggesting impaired apical secretion of Sertoli cells

homeostasis/metabolism
decreased circulating testosterone level ( J:132612 )
• at P56-P365, adult mutant males exhibit significantly reduced serum testosterone levels relative to control males
• in contrast, adult serum follicle stimulation hormone (FSH) and triiodothyronine (T3) levels remain relatively unaffected




Genotype
MGI:5766943
cn21
Allelic
Composition		 Mex3btm1.1Mbld/Mex3btm1.1Mbld
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mex3btm1.1Mbld mutation (0 available); any Mex3b mutation (19 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:213588 )
N
• mice exhibit no perinatal lethality, unlike Mex3btm1.2Mbld homozygotes

growth/size/body
growth/size/body region phenotype ( J:213588 )
N
• mice exhibit no defect in postnatal growth, unlike Mex3btm1.2Mbld homozygotes

reproductive system
abnormal seminiferous tubule morphology ( J:213588 )
• at 1 and 2 months of age, mice exhibit obstructed seminiferous tubules at a ratio that is very similar to that seen in male Mex3btm1.2Mbld homozygotes
• tubule lumens are obstructed at stages V and VIII whereas those of control mice are empty (stages VIII and XI)
increased Sertoli cell number ( J:213588 )
• at 1 and 2 months of age, mice exhibit a decreased ratio between germ and Sertoli cells, in the same order of magnitude as that seen in Mex3btm1.2Mbld homozygotes
abnormal Sertoli cell barrier function ( J:213588 )
• mice exhibit altered permeability of the blood-testis barrier (BTB) leading to the production of anti-sperm antibodies
reduced male fertility ( J:213588 )
• upon breeding with Mex3btm1.1Mbld female homozygotes, males exhibit a reduction in fertility similar to that observed upon breeding of Mex3btm1.2Mbld male homozygotes with wild-type females

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:213588 )
• at 1 and 2 months of age, mice exhibit obstructed seminiferous tubules at a ratio that is very similar to that seen in male Mex3btm1.2Mbld homozygotes
• tubule lumens are obstructed at stages V and VIII whereas those of control mice are empty (stages VIII and XI)
increased Sertoli cell number ( J:213588 )
• at 1 and 2 months of age, mice exhibit a decreased ratio between germ and Sertoli cells, in the same order of magnitude as that seen in Mex3btm1.2Mbld homozygotes
abnormal Sertoli cell barrier function ( J:213588 )
• mice exhibit altered permeability of the blood-testis barrier (BTB) leading to the production of anti-sperm antibodies

immune system
increased anti-sperm antibody level ( J:213588 )
• mice exhibit increased levels of anti-sperm cell antibodies in the serum, indicating that BTB integrity is impaired




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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04/16/2024
MGI 6.23 		The Jackson Laboratory