About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tg(Amh-cre)8815Reb
transgene insertion 8815, Robert E Braun
MGI:3044683
Summary 17 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Artm2.1Reb/Ar+
Tg(Amh-cre)8815Reb/? 		129S(FVB)-Artm2.1Reb MGI:5571719
cn2
 		Fbxw7tm1Iaai/Fbxw7tm1Iaai
Tg(Amh-cre)8815Reb/0 		involves: 129 * C57BL/6 * C57BL/6J * FVB/N MGI:7284367
cn3
 		Ranbp9tm1Wyan/Ranbp9tm1Wyan
Tg(Amh-cre)8815Reb/0 		involves: 129 * C57BL/6J * FVB/N MGI:5702974
cn4
 		Elmo1tm1.1Ravi/Elmo1tm1.1Ravi
Tg(Amh-cre)8815Reb/0 		involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL MGI:4838437
cn5
 		Rpl22tm1.1Psam/Rpl22+
Tg(Amh-cre)8815Reb/0 		involves: 129S1/Sv * 129X1/SvJ * FVB/N MGI:4355971
cn6
 		Rhebtm1Pfw/Rhebtm1Pfw
Tg(Amh-cre)8815Reb/0 		involves: 129S1/SvImJ * FVB/N MGI:6460092
cn7
 		Meig1tm1.1Zzha/Meig1tm1.1Zzha
Tg(Amh-cre)8815Reb/0 		involves: 129S1/SvImJ * FVB/N MGI:6852584
cn8
 		Artm1Reb/Y
Tg(Amh-cre)8815Reb/? 		involves: 129S4/SvJaeSor * FVB/N MGI:3044688
cn9
 		Mlxtm1.1Rne/Mlxtm1.1Rne
Tg(Amh-cre)8815Reb/0 		involves: 129S4/SvJaeSor * FVB/N MGI:7444310
cn10
 		Arid4btm1Alb/Arid4btm1.1Mywu
Tg(Amh-cre)8815Reb/0 		involves: 129S7/SvEvBrd * C57BL/6J * FVB/N MGI:6369716
cn11
 		Jmytm1Smoc/Jmytm1Smoc
Tg(Amh-cre)8815Reb/0 		involves: 129S * C57BL/6 MGI:6724575
cn12
 		Rptortm1.1Dmsa/Rptortm1.1Dmsa
Tg(Amh-cre)8815Reb/0 		involves: 129S/SvEv * 129S1/SvImJ * C57BL/6 * FVB/N MGI:6460081
cn13
 		Rdh10tm1c(KOMP)Wtsi/Rdh10tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0
Tg(RARE-Hspa1b/lacZ)12Jrt/0
Tg(Stra8-icre)1Reb/0 		involves: C57BL/6 * C57BL/6N * CD-1 * FVB/N * SJL MGI:5475537
cn14
 		Rdh10tm1c(KOMP)Wtsi/Rdh10tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0
Tg(Stra8-icre)1Reb/0 		involves: C57BL/6 * C57BL/6N * FVB/N * SJL MGI:5475536
cn15
 		Rdh10tm1c(KOMP)Wtsi/Rdh10tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0 		involves: C57BL/6 * C57BL/6N * FVB/N * SJL MGI:5475534
cn16
 		Uhrf1tm1Smoc/Uhrf1tm1Smoc
Tg(Amh-cre)8815Reb/0 		involves: C57BL/6J * FVB/N MGI:7281308
cn17
 		Slc9a8tm1c(KOMP)Wtsi/Slc9a8tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0 		involves: C57BL/6N MGI:6887370


Genotype
MGI:5571719
cn1
Allelic
Composition		 Artm2.1Reb/Ar+
Tg(Amh-cre)8815Reb/?
Genetic
Background		 129S(FVB)-Artm2.1Reb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Artm2.1Reb mutation (2 available); any Ar mutation (22 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
abnormal Sertoli cell barrier morphology ( J:210656 )
• seminiferous tubules have stretches of severely disorganized Sertoli cell tight junctions interspersed with intact areas
• preleptotene spermatocytes are enclosed in incomplete Sertoli cell tight junction compartments
abnormal Sertoli cell barrier function ( J:210656 )
• serum albumin is detected in adluminal compartment of seminiferous tubules; an indication of Sertoli cell tight junction barrier dysfunction

reproductive system
abnormal Sertoli cell barrier morphology ( J:210656 )
• seminiferous tubules have stretches of severely disorganized Sertoli cell tight junctions interspersed with intact areas
• preleptotene spermatocytes are enclosed in incomplete Sertoli cell tight junction compartments
abnormal Sertoli cell barrier function ( J:210656 )
• serum albumin is detected in adluminal compartment of seminiferous tubules; an indication of Sertoli cell tight junction barrier dysfunction




Genotype
MGI:7284367
cn2
Allelic
Composition		 Fbxw7tm1Iaai/Fbxw7tm1Iaai
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129 * C57BL/6 * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw7tm1Iaai mutation (1 available); any Fbxw7 mutation (82 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
decreased male germ cell number ( J:289161 )
• males show progressive loss of germ cells in the seminiferous tubules from 4 weeks, with complete loss of germ cells by 8 weeks of age
oligozoospermia ( J:289161 )
• adult males show a 67% reduction in epididymal sperm count relative to control males
abnormal male germ cell physiology ( J:289161 )
• at 8 weeks of age, germ cell proliferation is significantly reduced in the seminiferous epithelium, as shown by Ki-67 immunostaining
increased male germ cell apoptosis ( J:289161 )
• at 8 weeks of age, excessive germ cell apoptosis is detected by a TUNEL assay
abnormal seminiferous tubule epithelium morphology ( J:289161 )
• impaired cytoskeletal organization and cell polarity of Sertoli cells results in disruption of cell architecture throughout the seminiferous epithelium
abnormal Sertoli cell barrier morphology ( J:289161 )
• immunofluorescence of blood-testis barrier (BTB) proteins TJP1 (ZO-1), occluding (OCLN) and CTNNB1 (beta-catenin) showed abnormal expression and discontinuous distribution of these proteins along the basement membrane, suggesting a collapse of BTB structure
abnormal Sertoli cell morphology ( J:289161 )
• immunostaining of actin and tubulin showed irregular arrangement and aberrant assembly of actin filaments, indicating impaired cytoskeletal organization in Sertoli cells (SCs)
• vimentin expression is completely disordered, as shown by the absence of directional polarity and loss of expression in some tubules
decreased Sertoli cell number ( J:289161 )
• number of WT1-positive SCs is significantly decreased at 4 weeks, with an even greater reduction seen at 8 weeks
ectopic Sertoli cells ( J:289161 )
• immunofluorescence of Wilm's tumor 1 (WT1, a nuclear marker for SCs) showed many SCs scattered over the seminiferous epithelium, even in tubules with many germ cells, indicating aberrant location and disrupted SC polarity
seminiferous tubule degeneration ( J:289161 )
• males exhibit age-dependent seminiferous tubule degeneration
• at 4 weeks, some tubules show loss of tubular cellular architecture and germ cells
• by 8 weeks, tubules display severe atrophy (13.6%), abnormal localization of sperm cells (40.1%), loss of cellular architecture and absence of tubular lumen (12.9%), severe vacuolization of the seminiferous epithelium, and a Sertoli cell-only phenotype with complete loss of germ cells (13.8%)
abnormal testis development ( J:289161 )
• at 8 weeks of age, mRNA levels of several functional markers for germ cells, Leydig cells, and Sertoli cells (SCs) are significantly reduced
• protein levels of GATA4 (a transcription factor that plays a critical role in SC maturation and testis development) are abnormally increased at 4 weeks, whereas Gata4 mRNA levels remain normal
small testis ( J:289161 )
• adult males have significantly smaller testes than controls males
decreased testis weight ( J:289161 )
• testes weight is significantly reduced starting at 4 weeks of age
• by 8 weeks of age, testes weight is reduced by 67% relative to control testes
• however, body weight is normal at all ages examined
testicular atrophy ( J:289161 )
• by 8 weeks of age, 13.6% of seminiferous tubules exhibit severe atrophy
testis degeneration ( J:289161 )
• males exhibit age-dependent testicular degeneration
arrest of spermatogenesis ( J:289161 )
• at 8 weeks of age, males display severe spermatogenic defects, as shown by immunofluorescence of PNA (a marker for acrosome structure in the round and elongating spermatids), c-Kit (a marker for differentiating spermatogonia), and DDX4 (a general marker for germ cells)
abnormal epididymis morphology ( J:289161 )
• adult males show a 10-fold increase in the number of epididymal tubules devoid of sperm
small epididymis ( J:289161 )
• adult epididymal size is significantly reduced
decreased epididymis weight ( J:289161 )
• adult epididymal weight is significantly reduced
decreased litter size ( J:289161 )
• when mated with wild-type females of proven fertility, males sire a significantly smaller litter size at 5 and 6 months of age, with no pups produced at 7 months
male infertility ( J:289161 )
• males become infertile by 7 months of age
reduced male fertility ( J:289161 )
• males show an age-dependent decrease in fertility starting at 2 months of age

cellular
decreased male germ cell number ( J:289161 )
• males show progressive loss of germ cells in the seminiferous tubules from 4 weeks, with complete loss of germ cells by 8 weeks of age
oligozoospermia ( J:289161 )
• adult males show a 67% reduction in epididymal sperm count relative to control males
abnormal male germ cell physiology ( J:289161 )
• at 8 weeks of age, germ cell proliferation is significantly reduced in the seminiferous epithelium, as shown by Ki-67 immunostaining
increased male germ cell apoptosis ( J:289161 )
• at 8 weeks of age, excessive germ cell apoptosis is detected by a TUNEL assay

homeostasis/metabolism
decreased circulating testosterone level ( J:289161 )
• plasma testosterone levels are normal at 4 weeks but severely reduced at 8 and 28 weeks of age
• reduced testosterone secretion is due to progressive Leydig cell inefficiency rather than progressive Leydig cell loss

endocrine/exocrine glands
abnormal seminiferous tubule epithelium morphology ( J:289161 )
• impaired cytoskeletal organization and cell polarity of Sertoli cells results in disruption of cell architecture throughout the seminiferous epithelium
abnormal Sertoli cell barrier morphology ( J:289161 )
• immunofluorescence of blood-testis barrier (BTB) proteins TJP1 (ZO-1), occluding (OCLN) and CTNNB1 (beta-catenin) showed abnormal expression and discontinuous distribution of these proteins along the basement membrane, suggesting a collapse of BTB structure
abnormal Sertoli cell morphology ( J:289161 )
• immunostaining of actin and tubulin showed irregular arrangement and aberrant assembly of actin filaments, indicating impaired cytoskeletal organization in Sertoli cells (SCs)
• vimentin expression is completely disordered, as shown by the absence of directional polarity and loss of expression in some tubules
decreased Sertoli cell number ( J:289161 )
• number of WT1-positive SCs is significantly decreased at 4 weeks, with an even greater reduction seen at 8 weeks
ectopic Sertoli cells ( J:289161 )
• immunofluorescence of Wilm's tumor 1 (WT1, a nuclear marker for SCs) showed many SCs scattered over the seminiferous epithelium, even in tubules with many germ cells, indicating aberrant location and disrupted SC polarity
seminiferous tubule degeneration ( J:289161 )
• males exhibit age-dependent seminiferous tubule degeneration
• at 4 weeks, some tubules show loss of tubular cellular architecture and germ cells
• by 8 weeks, tubules display severe atrophy (13.6%), abnormal localization of sperm cells (40.1%), loss of cellular architecture and absence of tubular lumen (12.9%), severe vacuolization of the seminiferous epithelium, and a Sertoli cell-only phenotype with complete loss of germ cells (13.8%)
abnormal testis development ( J:289161 )
• at 8 weeks of age, mRNA levels of several functional markers for germ cells, Leydig cells, and Sertoli cells (SCs) are significantly reduced
• protein levels of GATA4 (a transcription factor that plays a critical role in SC maturation and testis development) are abnormally increased at 4 weeks, whereas Gata4 mRNA levels remain normal
small testis ( J:289161 )
• adult males have significantly smaller testes than controls males
decreased testis weight ( J:289161 )
• testes weight is significantly reduced starting at 4 weeks of age
• by 8 weeks of age, testes weight is reduced by 67% relative to control testes
• however, body weight is normal at all ages examined
testicular atrophy ( J:289161 )
• by 8 weeks of age, 13.6% of seminiferous tubules exhibit severe atrophy
testis degeneration ( J:289161 )
• males exhibit age-dependent testicular degeneration




Genotype
MGI:5702974
cn3
Allelic
Composition		 Ranbp9tm1Wyan/Ranbp9tm1Wyan
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129 * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ranbp9tm1Wyan mutation (0 available); any Ranbp9 mutation (40 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:222184 )
N
• males develop normally and are fertile, have normal testicular histology, sperm counts, and motility




Genotype
MGI:4838437
cn4
Allelic
Composition		 Elmo1tm1.1Ravi/Elmo1tm1.1Ravi
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elmo1tm1.1Ravi mutation (0 available); any Elmo1 mutation (58 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
increased male germ cell apoptosis ( J:164662 )
• apoptosis of spermatogenesis in middle and late stages is increased compared to in wild-type mice
abnormal seminiferous tubule morphology ( J:164662 )
• mice contain an increased number of uncleared apoptotic nuclei compared to in wild-type mice

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:164662 )
• mice contain an increased number of uncleared apoptotic nuclei compared to in wild-type mice

cellular
increased male germ cell apoptosis ( J:164662 )
• apoptosis of spermatogenesis in middle and late stages is increased compared to in wild-type mice




Genotype
MGI:4355971
cn5
Allelic
Composition		 Rpl22tm1.1Psam/Rpl22+
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl22tm1.1Psam mutation (2 available); any Rpl22 mutation (46 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:6460092
cn6
Allelic
Composition		 Rhebtm1Pfw/Rhebtm1Pfw
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129S1/SvImJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhebtm1Pfw mutation (0 available); any Rheb mutation (26 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:268375 )
N
• adult males are fertile, have many normal sperm present in the epididymis, and show normal distribution of vimentin filaments in Sertoli cells (SCs) at 2 months of age, suggesting normal SC cytoskeletal organization
oligozoospermia ( J:268375 )
• 70% reduction in sperm count at 2 months of age
abnormal seminiferous tubule morphology ( J:268375 )
• adult mice display only mild morphological alterations in the seminiferous tubules
decreased testis weight ( J:268375 )
• 60% reduction in testis weight at 2 months of age
decreased epididymis weight ( J:268375 )
• 54% reduction in epididymis weight at 2 months of age

cellular
oligozoospermia ( J:268375 )
• 70% reduction in sperm count at 2 months of age

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:268375 )
• adult mice display only mild morphological alterations in the seminiferous tubules
decreased testis weight ( J:268375 )
• 60% reduction in testis weight at 2 months of age




Genotype
MGI:6852584
cn7
Allelic
Composition		 Meig1tm1.1Zzha/Meig1tm1.1Zzha
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129S1/SvImJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meig1tm1.1Zzha mutation (0 available); any Meig1 mutation (14 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:194944 )
N
• all males are fertile and sire normal numbers of offspring
• testis weight to body weight and seminal vesicle weight to body weight ratios are normal
• epididymidal sperm count, testis as well as epididymal histology and sperm morphology are normal, and no reduction in sperm motility is observed




Genotype
MGI:3044688
cn8
Allelic
Composition		 Artm1Reb/Y
Tg(Amh-cre)8815Reb/?
Genetic
Background		 involves: 129S4/SvJaeSor * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Artm1Reb mutation (0 available); any Ar mutation (22 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
azoospermia ( J:90393 )
• mature sperm undetectable in epididymis
• many highly vacuolated spermatids

endocrine/exocrine glands
decreased seminal vesicle weight ( J:90393 )
• seminal vesicle reduced in weight about 20%
abnormal seminiferous tubule morphology ( J:90393 )
• normal tubules of stages I-VIII are missing
• elongated spermatids absent
decreased testis weight ( J:90393 )
• testis weight about 40% less than normal
abnormal Sertoli cell barrier function ( J:210656 )
• serum albumin is detected in adluminal compartment of seminiferous tubules; an indication of Sertoli cell tight junction barrier dysfunction

homeostasis/metabolism

reproductive system
azoospermia ( J:90393 )
• mature sperm undetectable in epididymis
• many highly vacuolated spermatids
decreased seminal vesicle weight ( J:90393 )
• seminal vesicle reduced in weight about 20%
abnormal seminiferous tubule morphology ( J:90393 )
• normal tubules of stages I-VIII are missing
• elongated spermatids absent
decreased testis weight ( J:90393 )
• testis weight about 40% less than normal
abnormal Sertoli cell barrier function ( J:210656 )
• serum albumin is detected in adluminal compartment of seminiferous tubules; an indication of Sertoli cell tight junction barrier dysfunction




Genotype
MGI:7444310
cn9
Allelic
Composition		 Mlxtm1.1Rne/Mlxtm1.1Rne
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129S4/SvJaeSor * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mlxtm1.1Rne mutation (1 available); any Mlx mutation (18 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
oligozoospermia ( J:324060 )
• decreased cauda epididymal sperm content

reproductive system
oligozoospermia ( J:324060 )
• decreased cauda epididymal sperm content




Genotype
MGI:6369716
cn10
Allelic
Composition		 Arid4btm1Alb/Arid4btm1.1Mywu
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4btm1.1Mywu mutation (0 available); any Arid4b mutation (65 available)
Arid4btm1Alb mutation (0 available); any Arid4b mutation (65 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal spermatogonia morphology ( J:233398 )
• only a few spermatogonia are detected in seminiferous tubules at P10
decreased male germ cell number ( J:233398 )
• immunofluorescence analysis revealed a significantly reduced number of TRA98+ germ cells at P10, with only few seminiferous tubules containing germ cells by P20
• no germ cells are produced in tubules that contain immature (AMH+) Sertoli cells at P20
• however, population of germ cells is normal at E15.5
abnormal seminiferous tubule morphology ( J:233398 )
• fewer germ cells are found in seminiferous tubules relative to controls at P10 and P20
• sloughing of cells into the lumen of the tubules is clearly detected at P20
• at P20, immature (AMH+) Sertoli cells are still present in many tubules, unlike in control testes; no germ cells are produced in such tubules, resulting in the formation of Sertoli cell-only tubules
• at P42, some tubules are completely devoid of germ cells and contain only Sertoli cells at the basal membrane
abnormal seminiferous tubule epithelium morphology ( J:233398 )
• only a thin layer of seminiferous tubule epithelium is observed at P10, unlike in control testes where thickness of the germinal epithelium is increased
dilated seminiferous tubule ( J:233398 )
• large increase in seminiferous tubular diameter and widened central lumen at P30 and P42
seminiferous tubule degeneration ( J:233398 )
• many seminiferous tubules undergo severe vacuolar degeneration at P42
abnormal Sertoli cell development ( J:233398 )
• Sertoli cell maturation is delayed, as indicated by persistent expression of AMH (an immature Sertoli cell marker) at P10, P20, P30, and P42, despite decreases in intensity
• at P20, germ cells are produced only in seminiferous tubules that do not express AMH, suggesting that immature Sertoli cells are unable to support developing germ cells even at puberty
small testis ( J:233398 )
• significantly reduced testis size at 6 weeks of age
• normal testis size at P2.5 with significant decrease in testis size from P10 onward
decreased testis weight ( J:233398 )
• at 6 weeks of age, testis weight is reduced to ~25% of control values
abnormal testis physiology ( J:233398 )
• down-regulation of androgen receptor (AR) responsive genes Rhox5 and Cldn3 in testes at P42
• however, despite delayed maturation of Sertoli cells, AR expression in Sertoli cells is normal at P10, P20, and P30
increased testis apoptosis ( J:233398 )
• significant increase in testis apoptosis at P10, P20, and P30, as shown by TUNEL assays
• strikingly, ~60% seminiferous tubules are TUNEL+ at P10
• although number of TUNEL+ tubules decreases with age, apoptotic cells are still found in ~25% of tubules at P30
abnormal spermatogenesis ( J:233398 )
• males exhibit delayed onset of spermatogenesis as well as impaired spermatogenic progression
azoospermia ( J:233398 )
• absence of mature spermatozoa in the epididymal lumen at P42
abnormal spermatid morphology ( J:233398 )
• no round spermatids are present in seminiferous tubules at P20, unlike in control testes
• only round spermatids, but no elongating spermatids, are present in tubules at P30, unlike in control testes
• no elongating spermatids are present in tubules at P42, unlike in control testes
• only few round spermatids are present in the epididymal lumen at P42
arrest of spermatogenesis ( J:233398 )
• spermatogenic arrest at the round spermatid stage
small epididymis ( J:233398 )
• significantly reduced epididymis size at 6 weeks of age
decreased epididymis weight ( J:233398 )
• at 6 weeks of age, epididymis weight is reduced to ~65% of control values
male infertility ( J:233398 )
• males are completely infertile

homeostasis/metabolism
increased circulating follicle stimulating hormone level ( J:233398 )
• males show significantly increased serum FSH levels at 2 months of age
• however, serum testosterone levels are normal
increased circulating luteinizing hormone level ( J:233398 )
• males show significantly increased serum LH levels at 2 months of age

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:233398 )
• fewer germ cells are found in seminiferous tubules relative to controls at P10 and P20
• sloughing of cells into the lumen of the tubules is clearly detected at P20
• at P20, immature (AMH+) Sertoli cells are still present in many tubules, unlike in control testes; no germ cells are produced in such tubules, resulting in the formation of Sertoli cell-only tubules
• at P42, some tubules are completely devoid of germ cells and contain only Sertoli cells at the basal membrane
abnormal seminiferous tubule epithelium morphology ( J:233398 )
• only a thin layer of seminiferous tubule epithelium is observed at P10, unlike in control testes where thickness of the germinal epithelium is increased
dilated seminiferous tubule ( J:233398 )
• large increase in seminiferous tubular diameter and widened central lumen at P30 and P42
seminiferous tubule degeneration ( J:233398 )
• many seminiferous tubules undergo severe vacuolar degeneration at P42
abnormal Sertoli cell development ( J:233398 )
• Sertoli cell maturation is delayed, as indicated by persistent expression of AMH (an immature Sertoli cell marker) at P10, P20, P30, and P42, despite decreases in intensity
• at P20, germ cells are produced only in seminiferous tubules that do not express AMH, suggesting that immature Sertoli cells are unable to support developing germ cells even at puberty
small testis ( J:233398 )
• significantly reduced testis size at 6 weeks of age
• normal testis size at P2.5 with significant decrease in testis size from P10 onward
decreased testis weight ( J:233398 )
• at 6 weeks of age, testis weight is reduced to ~25% of control values
abnormal testis physiology ( J:233398 )
• down-regulation of androgen receptor (AR) responsive genes Rhox5 and Cldn3 in testes at P42
• however, despite delayed maturation of Sertoli cells, AR expression in Sertoli cells is normal at P10, P20, and P30
increased testis apoptosis ( J:233398 )
• significant increase in testis apoptosis at P10, P20, and P30, as shown by TUNEL assays
• strikingly, ~60% seminiferous tubules are TUNEL+ at P10
• although number of TUNEL+ tubules decreases with age, apoptotic cells are still found in ~25% of tubules at P30

cellular
abnormal spermatid morphology ( J:233398 )
• no round spermatids are present in seminiferous tubules at P20, unlike in control testes
• only round spermatids, but no elongating spermatids, are present in tubules at P30, unlike in control testes
• no elongating spermatids are present in tubules at P42, unlike in control testes
• only few round spermatids are present in the epididymal lumen at P42
abnormal spermatogonia morphology ( J:233398 )
• only a few spermatogonia are detected in seminiferous tubules at P10
decreased male germ cell number ( J:233398 )
• immunofluorescence analysis revealed a significantly reduced number of TRA98+ germ cells at P10, with only few seminiferous tubules containing germ cells by P20
• no germ cells are produced in tubules that contain immature (AMH+) Sertoli cells at P20
• however, population of germ cells is normal at E15.5
azoospermia ( J:233398 )
• absence of mature spermatozoa in the epididymal lumen at P42
increased testis apoptosis ( J:233398 )
• significant increase in testis apoptosis at P10, P20, and P30, as shown by TUNEL assays
• strikingly, ~60% seminiferous tubules are TUNEL+ at P10
• although number of TUNEL+ tubules decreases with age, apoptotic cells are still found in ~25% of tubules at P30




Genotype
MGI:6724575
cn11
Allelic
Composition		 Jmytm1Smoc/Jmytm1Smoc
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129S * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jmytm1Smoc mutation (0 available); any Jmy mutation (35 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
enlarged sperm head ( J:307721 )
• enlarged deformed sperm head ratio
asthenozoospermia ( J:307721 )
• reduced motility
abnormal seminiferous tubule morphology ( J:307721 )
• loose arrangements between spermatogenic cells and Sertoli cells with abscission of round spermatids in the lumen of the seminiferous tubule
abnormal Sertoli cell barrier function ( J:307721 )
• loose arrangements between spermatogenic cells and Sertoli cells and disrupted endosomal recycling
decreased litter size ( J:307721 )
• reduced litter size from male mice
reduced male fertility ( J:307721 )
• reduced litter size from male mice

cellular
enlarged sperm head ( J:307721 )
• enlarged deformed sperm head ratio
asthenozoospermia ( J:307721 )
• reduced motility

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:307721 )
• loose arrangements between spermatogenic cells and Sertoli cells with abscission of round spermatids in the lumen of the seminiferous tubule
abnormal Sertoli cell barrier function ( J:307721 )
• loose arrangements between spermatogenic cells and Sertoli cells and disrupted endosomal recycling




Genotype
MGI:6460081
cn12
Allelic
Composition		 Rptortm1.1Dmsa/Rptortm1.1Dmsa
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: 129S/SvEv * 129S1/SvImJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rptortm1.1Dmsa mutation (1 available); any Rptor mutation (115 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal spermatid morphology ( J:268375 )
• immunofluorescence of PNA (a marker of acrosome structure in round and elongating spermatids), showed no round or elongating spermatids at 2 months of age
decreased male germ cell number ( J:268375 )
• massive male germ cell (GC) depletion at P15 with complete GC loss by 2 months of age
azoospermia ( J:268375 )
• no spermatozoa are found in the epididymis at 2 months of age
increased testis apoptosis ( J:268375 )
• increased number of apoptotic cells in the seminiferous epithelium after P10, as shown by TUNEL staining; likely contributing to GC loss and tubular degeneration
abnormal male germ cell physiology ( J:268375 )
• impaired male GC proliferation after P10, as shown by Ki67 staining
abnormal seminiferous tubule morphology ( J:268375 )
• progressive collapse of tubular architecture with aberrant localization of the basement membrane and type I collagen layer, as shown by immunofluorescent staining of laminin alpha2 and collagen I
abnormal peritubular myoid cell morphology ( J:268375 )
• aberrant localization of peritubular myoid cells in most tubules, as shown by absence of alpha-smooth muscle actin staining from P15
abnormal seminiferous tubule epithelium morphology ( J:268375 )
• at P15, the seminiferous epithelium shows complete loss of all cell architecture while some tubules display a Sertoli-cell-only phenotype
• disruption of cytoskeletal organization of actin, microtubules, and vimentin across the seminiferous epithelium
abnormal Sertoli cell barrier morphology ( J:268375 )
• immunofluorescence of blood-testis barrier (BTB) proteins (ZO-1, ZO-2, and beta-catenin) revealed disruption of BTB integrity
decreased Sertoli cell number ( J:268375 )
• the number of SCs is dramatically reduced from P10
ectopic Sertoli cells ( J:268375 )
• immunofluorescence of Wilm's tumor 1 (WT1, a marker for Sertoli cell (SC) nuclei), revealed aberrant localization of SCs at P15
• many tubules with relatively intact tubular structures have a large proportion of SCs scattered over the seminiferous epithelium, rather than located along the basal membrane as in the control mice, suggesting impaired SC polarity
seminiferous tubule degeneration ( J:268375 )
• males exhibit progressive atrophy of the seminiferous tubules starting at P5
• most tubules show degeneration and loss of tubular structures by P15
• complete loss of the tubular structures by 2 months of age
abnormal testis development ( J:268375 )
• disrupted balance of testicular cell populations at 2 months of age, with significantly decreased mRNA levels of functional markers for male germ cells and Sertoli cells and increased mRNA levels of markers for Leydig cells
decreased testis weight ( J:268375 )
• testis weight is normal at P1 but starts to decline after P5; testis weight is reduced by 80% at P15 and is less than 10% of that in control mice at 2 months of age
testis degeneration ( J:268375 )
• males exhibit progressive testis degeneration
abnormal spermiogenesis ( J:268375 )
• immunofluorescence of PNA (a marker of acrosome structure in round and elongating spermatids), showed no round or elongating spermatids at 2 months of age
decreased epididymis weight ( J:268375 )
• epididymis weight is reduced to 25% of that in control mice at 2 months of age
male infertility ( J:268375 )
• males are infertile at 2 months of age

cellular
abnormal spermatid morphology ( J:268375 )
• immunofluorescence of PNA (a marker of acrosome structure in round and elongating spermatids), showed no round or elongating spermatids at 2 months of age
decreased male germ cell number ( J:268375 )
• massive male germ cell (GC) depletion at P15 with complete GC loss by 2 months of age
azoospermia ( J:268375 )
• no spermatozoa are found in the epididymis at 2 months of age
abnormal cell cytoskeleton morphology ( J:268375 )
• both the actin and microtubule cytoskeleton appear disorganized in Sertoli cells from P15, as shown by irregular arrangement and aberrant assembly of actin filaments and microtubules, respectively
• vimentin (a marker of the intrinsic cytoskeleton of SCs) fails to form apical extensions at P15 while its directional polarity is lost
• vimentin distribution appears disordered and its expression is completely lost in some tubules at 2 months of age
increased testis apoptosis ( J:268375 )
• increased number of apoptotic cells in the seminiferous epithelium after P10, as shown by TUNEL staining; likely contributing to GC loss and tubular degeneration
abnormal male germ cell physiology ( J:268375 )
• impaired male GC proliferation after P10, as shown by Ki67 staining

endocrine/exocrine glands
increased testis apoptosis ( J:268375 )
• increased number of apoptotic cells in the seminiferous epithelium after P10, as shown by TUNEL staining; likely contributing to GC loss and tubular degeneration
abnormal seminiferous tubule morphology ( J:268375 )
• progressive collapse of tubular architecture with aberrant localization of the basement membrane and type I collagen layer, as shown by immunofluorescent staining of laminin alpha2 and collagen I
abnormal peritubular myoid cell morphology ( J:268375 )
• aberrant localization of peritubular myoid cells in most tubules, as shown by absence of alpha-smooth muscle actin staining from P15
abnormal seminiferous tubule epithelium morphology ( J:268375 )
• at P15, the seminiferous epithelium shows complete loss of all cell architecture while some tubules display a Sertoli-cell-only phenotype
• disruption of cytoskeletal organization of actin, microtubules, and vimentin across the seminiferous epithelium
abnormal Sertoli cell barrier morphology ( J:268375 )
• immunofluorescence of blood-testis barrier (BTB) proteins (ZO-1, ZO-2, and beta-catenin) revealed disruption of BTB integrity
decreased Sertoli cell number ( J:268375 )
• the number of SCs is dramatically reduced from P10
ectopic Sertoli cells ( J:268375 )
• immunofluorescence of Wilm's tumor 1 (WT1, a marker for Sertoli cell (SC) nuclei), revealed aberrant localization of SCs at P15
• many tubules with relatively intact tubular structures have a large proportion of SCs scattered over the seminiferous epithelium, rather than located along the basal membrane as in the control mice, suggesting impaired SC polarity
seminiferous tubule degeneration ( J:268375 )
• males exhibit progressive atrophy of the seminiferous tubules starting at P5
• most tubules show degeneration and loss of tubular structures by P15
• complete loss of the tubular structures by 2 months of age
abnormal testis development ( J:268375 )
• disrupted balance of testicular cell populations at 2 months of age, with significantly decreased mRNA levels of functional markers for male germ cells and Sertoli cells and increased mRNA levels of markers for Leydig cells
decreased testis weight ( J:268375 )
• testis weight is normal at P1 but starts to decline after P5; testis weight is reduced by 80% at P15 and is less than 10% of that in control mice at 2 months of age
testis degeneration ( J:268375 )
• males exhibit progressive testis degeneration




Genotype
MGI:5475537
cn13
Allelic
Composition		 Rdh10tm1c(KOMP)Wtsi/Rdh10tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0
Tg(RARE-Hspa1b/lacZ)12Jrt/0
Tg(Stra8-icre)1Reb/0
Genetic
Background		 involves: C57BL/6 * C57BL/6N * CD-1 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rdh10tm1c(KOMP)Wtsi mutation (0 available); any Rdh10 mutation (20 available)
Tg(Amh-cre)8815Reb mutation (2 available)
Tg(RARE-Hspa1b/lacZ)12Jrt mutation (2 available)
Tg(Stra8-icre)1Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system

endocrine/exocrine glands




Genotype
MGI:5475536
cn14
Allelic
Composition		 Rdh10tm1c(KOMP)Wtsi/Rdh10tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0
Tg(Stra8-icre)1Reb/0
Genetic
Background		 involves: C57BL/6 * C57BL/6N * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rdh10tm1c(KOMP)Wtsi mutation (0 available); any Rdh10 mutation (20 available)
Tg(Amh-cre)8815Reb mutation (2 available)
Tg(Stra8-icre)1Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal spermatogonia morphology ( J:193281 )
• block of differentiation of Aal spermatogonia into A1 spermatogonia at 2 and 3 weeks of age
abnormal seminiferous tubule morphology ( J:193281 )
• most tubules are devoid of meiotic cells at 2 and 3 weeks of age, retaining only undifferentiated spermatogonia-like cells and Sertoli cells
• however, by 9 weeks of age, tubules contain the expected spermatogonia, spermatocytes, and spermatids
seminiferous tubule degeneration ( J:193281 )
• over 85% of tubules are degenerated at 2 and 3 weeks of age
small testis ( J:193281 )
• at 2 and 3 weeks of age
decreased testis weight ( J:193281 )
• dramatically lower at 2 and 3 weeks of age compared to wild-type controls and homozygous mice carrying only one of the cre transgenes
abnormal spermatogenesis ( J:193281 )
• most tubules are devoid of meiotic cells at 2 and 3 weeks of age, retaining only undifferentiated spermatogonia-like cells and Sertoli cells
• treatment with retinoic acid enhances synchrony of spermatogenesis
• however, by 9 weeks of age, spermatogenesis is similar to controls
• in adults only 1 of 48 males shows spermatogenesis with an altered stage frequency
arrest of male meiosis ( J:193281 )
• fail to initiate meiosis at 2 and 3 weeks of age
abnormal male reproductive system physiology ( J:193281 )
• numerous degenerated germ cells are present in the testes at 2 and 3 weeks of age
reduced male fertility ( J:193281 )
• males under 7 weeks of age are infertile or subfertile
• however, mice over 9 weeks of age are fertile and produce litters similar in size to controls

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:193281 )
• most tubules are devoid of meiotic cells at 2 and 3 weeks of age, retaining only undifferentiated spermatogonia-like cells and Sertoli cells
• however, by 9 weeks of age, tubules contain the expected spermatogonia, spermatocytes, and spermatids
seminiferous tubule degeneration ( J:193281 )
• over 85% of tubules are degenerated at 2 and 3 weeks of age
small testis ( J:193281 )
• at 2 and 3 weeks of age
decreased testis weight ( J:193281 )
• dramatically lower at 2 and 3 weeks of age compared to wild-type controls and homozygous mice carrying only one of the cre transgenes

cellular
abnormal spermatogonia morphology ( J:193281 )
• block of differentiation of Aal spermatogonia into A1 spermatogonia at 2 and 3 weeks of age




Genotype
MGI:5475534
cn15
Allelic
Composition		 Rdh10tm1c(KOMP)Wtsi/Rdh10tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: C57BL/6 * C57BL/6N * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rdh10tm1c(KOMP)Wtsi mutation (0 available); any Rdh10 mutation (20 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
seminiferous tubule degeneration ( J:193281 )
• about 45% of the tubules are degenerated at 2 and 3 weeks of age
decreased testis weight ( J:193281 )
• at 2 and 3 weeks of age
abnormal male reproductive system physiology ( J:193281 )
• numerous degenerated germ cells are present in the testes

endocrine/exocrine glands
seminiferous tubule degeneration ( J:193281 )
• about 45% of the tubules are degenerated at 2 and 3 weeks of age
decreased testis weight ( J:193281 )
• at 2 and 3 weeks of age




Genotype
MGI:7281308
cn16
Allelic
Composition		 Uhrf1tm1Smoc/Uhrf1tm1Smoc
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Amh-cre)8815Reb mutation (2 available)
Uhrf1tm1Smoc mutation (0 available); any Uhrf1 mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
decreased male germ cell number ( J:324178 )
• the number of DDX4-positive germ cells per seminiferous tubule is significantly decreased at P7, P14 and P21 whereas the number of PLZF-positive cells per tubule is normal
• the ratio of DDX4-positive to WT1-positive cell numbers per seminiferous tubule is significantly increased at P7 but reduced at P14 and P21
increased male germ cell apoptosis ( J:324178 )
• many DDX4 (DEAD box helicase 4)-positive and TUNEL-positive cells are detected in the cauda epididymis at P56
• number of TUNEL-positive cells per seminiferous tubule is significantly increased at P7, P14 and P21, indicating increased male germ cell apoptosis
decreased Sertoli cell proliferation ( J:324178 )
• the ratio of Ki67-positive cells to WT1-positive Sertoli cells per seminiferous tubule is significantly reduced at P3 and P5, indicating decreased Sertoli cell proliferation
• in vitro, the % of EDU-positive Sertoli cells is significantly less than in controls at P3 and P5
abnormal Sertoli cell barrier morphology ( J:324178 )
• F-ACTIN is no longer tightly localized at the basal ectoplasmic specialization (ES) to support the blood-testis barrier (BTB) but appears as a truncated/branched network diffusely localized at the adluminal compartment of seminiferous tubules
• basal ES proteins (N-cadherin and beta-catenin) and tight junction proteins (ZO-2) are diffusely localized at the BTB, extending well beyond the basement membrane
abnormal Sertoli cell morphology ( J:324178 )
• at P60, immunostainings of beta-ACTIN and alpha-TUBULIN revealed a disorganized actin and microtubular arrangement in seminiferous tubules
• the total length of vimentin-positive Sertoli cell arms is significantly shorter than in controls
• overall, the cytoskeletal organization of Sertoli cells is disrupted, thus compromising cell adhesion between germ cells and Sertoli cells
• at P21, purified primary Sertoli cells also show a disorganized F-ACTIN cytoskeletal structure
• at P56, TEM analysis of the seminiferous epithelium showed abnormally thin cytoplasmic arms, poor adherence to neighboring germ cell gaps, fragmented nucleoli, and massive accumulation of lipids in Sertoli cells
decreased Sertoli cell number ( J:324178 )
• the number of WT1 (WT1 transcription factor)-positive Sertoli cells per seminiferous tubule is significantly reduced from P5 to P56
• the ratio of Ki67-positive cells to WT1-positive cells per seminiferous tubule is significantly reduced at P3 and P5, indicating decreased Sertoli cell proliferation
• however, no increase in Sertoli cell apoptosis is detected by TUNEL assay and WT1 co-staining at P21 and P43
ectopic Sertoli cells ( J:324178 )
• from P14 to P56, Sertoli cell nuclei are found in the centers of >60% of the seminiferous tubules, ranging from single nuclei to intratubular clusters of 5-10 nuclei, suggesting disrupted Sertoli cell polarity
small seminiferous tubules ( J:324178 )
• seminiferous tubule diameter is significantly reduced from P7 to P56
seminiferous tubule degeneration ( J:324178 )
• adult males show marked degeneration and atrophy of the seminiferous tubules
abnormal Sertoli cell development ( J:324178 )
• mRNA levels extracellular matrix (ECM)- and cell adhesion-related genes (e.g. Timp1, Trf, Spp1, Ccbe1, Lcn2, and Ahsg), are significantly upregulated in Sertoli cells at P3 (SCs in proliferation) and at P21 (SCs in differentiation) due to their DNA demethylation status
small testis ( J:324178 )
• testis size is significantly reduced at P56
decreased testis weight ( J:324178 )
• from P7 to P56, testis weight/body weight ratio is significantly lower than that in control males
abnormal Sertoli cell barrier function ( J:324178 )
• at P56, an in vivo biotin tracing assay showed presence of the tracer dye in the adluminal compartment of seminiferous tubules, suggesting a leaky BTB
arrest of spermatogenesis ( J:324178 )
• spermatogenic cells are gradually lost due to apoptosis from P7 leading to arrest of spermatogenesis at the elongating/elongated spermatid stage
• a massive loss of immature germ cells from the seminiferous epithelium is observed
• however, the ratio of 1N cell fractions (spermatids), 2N fractions (G1-phase spermatogonia and Sertoli cells), and 4N fractions (primary spermatocytes and G2-phase spermatogonia) is normal at P21, indicating normal spermatogonial differentiation and meiotic processes
small epididymis ( J:324178 )
• epididymis size is significantly reduced at P56
male infertility ( J:324178 )
• adult males are completely infertile

cellular
decreased male germ cell number ( J:324178 )
• the number of DDX4-positive germ cells per seminiferous tubule is significantly decreased at P7, P14 and P21 whereas the number of PLZF-positive cells per tubule is normal
• the ratio of DDX4-positive to WT1-positive cell numbers per seminiferous tubule is significantly increased at P7 but reduced at P14 and P21
abnormal cell cycle ( J:324178 )
• the ratio of P27-positive Sertoli cells to total Sertoli cells is significantly lower than in controls at P14, suggesting a delay in initiating cell cycle arrest
increased male germ cell apoptosis ( J:324178 )
• many DDX4 (DEAD box helicase 4)-positive and TUNEL-positive cells are detected in the cauda epididymis at P56
• number of TUNEL-positive cells per seminiferous tubule is significantly increased at P7, P14 and P21, indicating increased male germ cell apoptosis
decreased Sertoli cell proliferation ( J:324178 )
• the ratio of Ki67-positive cells to WT1-positive Sertoli cells per seminiferous tubule is significantly reduced at P3 and P5, indicating decreased Sertoli cell proliferation
• in vitro, the % of EDU-positive Sertoli cells is significantly less than in controls at P3 and P5
abnormal DNA methylation ( J:324178 )
• methylation levels in promoter regions of extracellular matrix (ECM)- and cell adhesion-related genes Timp1, Trf, and Spp1 are reduced in Sertoli cells at P3 and P21 relative to those in control Sertoli cells

endocrine/exocrine glands
decreased Sertoli cell proliferation ( J:324178 )
• the ratio of Ki67-positive cells to WT1-positive Sertoli cells per seminiferous tubule is significantly reduced at P3 and P5, indicating decreased Sertoli cell proliferation
• in vitro, the % of EDU-positive Sertoli cells is significantly less than in controls at P3 and P5
abnormal Sertoli cell barrier morphology ( J:324178 )
• F-ACTIN is no longer tightly localized at the basal ectoplasmic specialization (ES) to support the blood-testis barrier (BTB) but appears as a truncated/branched network diffusely localized at the adluminal compartment of seminiferous tubules
• basal ES proteins (N-cadherin and beta-catenin) and tight junction proteins (ZO-2) are diffusely localized at the BTB, extending well beyond the basement membrane
abnormal Sertoli cell morphology ( J:324178 )
• at P60, immunostainings of beta-ACTIN and alpha-TUBULIN revealed a disorganized actin and microtubular arrangement in seminiferous tubules
• the total length of vimentin-positive Sertoli cell arms is significantly shorter than in controls
• overall, the cytoskeletal organization of Sertoli cells is disrupted, thus compromising cell adhesion between germ cells and Sertoli cells
• at P21, purified primary Sertoli cells also show a disorganized F-ACTIN cytoskeletal structure
• at P56, TEM analysis of the seminiferous epithelium showed abnormally thin cytoplasmic arms, poor adherence to neighboring germ cell gaps, fragmented nucleoli, and massive accumulation of lipids in Sertoli cells
decreased Sertoli cell number ( J:324178 )
• the number of WT1 (WT1 transcription factor)-positive Sertoli cells per seminiferous tubule is significantly reduced from P5 to P56
• the ratio of Ki67-positive cells to WT1-positive cells per seminiferous tubule is significantly reduced at P3 and P5, indicating decreased Sertoli cell proliferation
• however, no increase in Sertoli cell apoptosis is detected by TUNEL assay and WT1 co-staining at P21 and P43
ectopic Sertoli cells ( J:324178 )
• from P14 to P56, Sertoli cell nuclei are found in the centers of >60% of the seminiferous tubules, ranging from single nuclei to intratubular clusters of 5-10 nuclei, suggesting disrupted Sertoli cell polarity
small seminiferous tubules ( J:324178 )
• seminiferous tubule diameter is significantly reduced from P7 to P56
seminiferous tubule degeneration ( J:324178 )
• adult males show marked degeneration and atrophy of the seminiferous tubules
abnormal Sertoli cell development ( J:324178 )
• mRNA levels extracellular matrix (ECM)- and cell adhesion-related genes (e.g. Timp1, Trf, Spp1, Ccbe1, Lcn2, and Ahsg), are significantly upregulated in Sertoli cells at P3 (SCs in proliferation) and at P21 (SCs in differentiation) due to their DNA demethylation status
small testis ( J:324178 )
• testis size is significantly reduced at P56
decreased testis weight ( J:324178 )
• from P7 to P56, testis weight/body weight ratio is significantly lower than that in control males
abnormal Sertoli cell barrier function ( J:324178 )
• at P56, an in vivo biotin tracing assay showed presence of the tracer dye in the adluminal compartment of seminiferous tubules, suggesting a leaky BTB




Genotype
MGI:6887370
cn17
Allelic
Composition		 Slc9a8tm1c(KOMP)Wtsi/Slc9a8tm1c(KOMP)Wtsi
Tg(Amh-cre)8815Reb/0
Genetic
Background		 involves: C57BL/6N
Cell Lines EPD0033_5_A07
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc9a8tm1c(KOMP)Wtsi mutation (0 available); any Slc9a8 mutation (108 available)
Tg(Amh-cre)8815Reb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:245977 )
N
• males are fertile and show no significant changes in the morphology and diameter of seminiferous tubules or sperm morphology relative to control males; spermatozoa exhibit normal acrosomal caps and mitochondrial sheaths




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory