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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Taf4btm1Rtj
targeted mutation 1, Robert Tjian
MGI:2152347
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Taf4btm1Rtj/Taf4btm1Rtj B6.129-Taf4btm1Rtj MGI:4361679
hm2
Taf4btm1Rtj/Taf4btm1Rtj involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2450751


Genotype
MGI:4361679
hm1
Allelic
Composition
Taf4btm1Rtj/Taf4btm1Rtj
Genetic
Background
B6.129-Taf4btm1Rtj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Taf4btm1Rtj mutation (0 available); any Taf4b mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• on a pure C57BL/6 background, young males are initially fertile but become infertile by 11 weeks of age
• on a pure C57BL/6 background, no litters are born to males after the first month of mating
• Background Sensitivity: unlike adult males on a pure C57BL/6 background, some males are still fertile on a mixed background involving 129/Sv and C57BL/6

reproductive system
• at P8, fewer male germ cells are detected in the testes
• at 8 weeks of age, some seminiferous tubules are clearly devoid of sperm
• by 8 months of age, males are infertile and exhibit seminiferous tubules that with few exceptions are completely devoid of sperm
• loss of male germ cells is detected as early as P2 and is cell autonomous and inherent to the germ cells
• by 12 weeks of age, sperm motility is severely impaired
• however, only mild changes in sperm motility are observed in fertile males at 8 weeks of age
• after the first round of spermatogenesis, seminiferous tubules degenerate and become completely devoid of germ cells by 8 months of age
• by 8 months of age, males display Leydig cell hyperplasia that is secondary to germ cell loss
• at 6 weeks of age, testes are significantly smaller than heterozygous control testes
• testis weights are lower than those of heterozygous controls as early as 3 weeks of age
• at 6 weeks of age, testes weigh ~58.1 mg while those of heterozygous controls weigh on average ~81.1 mg
• by 12 weeks of age, testis weights are only 40% of those in heterozygous controls
• on a pure C57BL/6 background, young males are initially fertile but become infertile by 11 weeks of age
• on a pure C57BL/6 background, no litters are born to males after the first month of mating
• Background Sensitivity: unlike adult males on a pure C57BL/6 background, some males are still fertile on a mixed background involving 129/Sv and C57BL/6
• adult males fail to maintain spermatogenesis, probably due to defects in spermatogonial stem cell function
• however, transplanted wild-type germ cell stem cells are able to colonize in seminiferous tubules of adult germ cell-depleted mutant mice
• by 12 weeks of age, males show a ~10-fold reduction in epididymal sperm count relative to heterozygous controls
• however, only mild changes in sperm count are observed in fertile males at 8 weeks of age
• at P2, gonocyte proliferation is impaired and expression of spermatogonial stem cell markers is reduced
• at P3, only 26.6% of seminiferous tubules contain phospho-histone H3 positive cells relative to 45.4% and 47.6% of wild-type and heterozygous tubules, respectively
• by P8, only 3.8 spermatogonia are found in seminiferous tubules relative to 14.4 and 14.9 in wild-type and heterozygous tubules, respectively
• however, no differences in TUNEL staining are observed in testes at P3 or in adulthood
• by 8 weeks of age, males show clear defects in spermiogenesis
• by 12 weeks of age, acrosome cap formation is severely impaired
• on a pure C57BL/6 background, young males are initially fertile but become infertile by 11 weeks of age

endocrine/exocrine glands
• after the first round of spermatogenesis, seminiferous tubules degenerate and become completely devoid of germ cells by 8 months of age
• by 8 months of age, males display Leydig cell hyperplasia that is secondary to germ cell loss
• at 6 weeks of age, testes are significantly smaller than heterozygous control testes
• testis weights are lower than those of heterozygous controls as early as 3 weeks of age
• at 6 weeks of age, testes weigh ~58.1 mg while those of heterozygous controls weigh on average ~81.1 mg
• by 12 weeks of age, testis weights are only 40% of those in heterozygous controls

homeostasis/metabolism
• at 8-9 weeks of age, but not prior to 7 weeks of age, males show increased serum FSH levels relative to heterozygous controls
• in contrast, serum levels of LH and testosterone remain unaffected at all ages examined

cellular
• by 12 weeks of age, acrosome cap formation is severely impaired
• at P8, fewer male germ cells are detected in the testes
• at 8 weeks of age, some seminiferous tubules are clearly devoid of sperm
• by 8 months of age, males are infertile and exhibit seminiferous tubules that with few exceptions are completely devoid of sperm
• loss of male germ cells is detected as early as P2 and is cell autonomous and inherent to the germ cells
• by 12 weeks of age, males show a ~10-fold reduction in epididymal sperm count relative to heterozygous controls
• however, only mild changes in sperm count are observed in fertile males at 8 weeks of age
• by 12 weeks of age, sperm motility is severely impaired
• however, only mild changes in sperm motility are observed in fertile males at 8 weeks of age
• at P2, gonocyte proliferation is impaired and expression of spermatogonial stem cell markers is reduced
• at P3, only 26.6% of seminiferous tubules contain phospho-histone H3 positive cells relative to 45.4% and 47.6% of wild-type and heterozygous tubules, respectively
• by P8, only 3.8 spermatogonia are found in seminiferous tubules relative to 14.4 and 14.9 in wild-type and heterozygous tubules, respectively
• however, no differences in TUNEL staining are observed in testes at P3 or in adulthood




Genotype
MGI:2450751
hm2
Allelic
Composition
Taf4btm1Rtj/Taf4btm1Rtj
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Taf4btm1Rtj mutation (0 available); any Taf4b mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• females show a rapid decline of ovarian function starting in early postnatal life, with signs of premature follicle loss at 9 weeks and complete follicle depletion by 16 weeks of age
• at 12 weeks, hemorrhagic ovarian cysts become evident, and many fragmented oocytes are seen in degenerating follicles

reproductive system
• ovulated eggs obtained from mated females fail to divide in vitro (J:71679)
• young females display fragmented oocytes, poor oocyte quality, and gene expression profiles consistent with advanced oocyte age (J:156655)
• females show progressive and rapid loss of maturing oocytes; ovaries contain very few oocytes by 10 weeks of age and are completely devoid of oocytes at 17 weeks of age
• after treatment with estrogen, ovaries from 3-4-week-old females show increased granulosa cell apoptosis in preantral follicles, as determined by activated caspase 3 immunostaining and TUNEL assays
• granulosa cells show significantly impaired ability to proliferate in response to multiple hormonal stimuli in vivo, including exogenous stimulation with estrogen or PMSG or endogenously increased FSH levels
• at 3, 6 and 12 weeks of age, numbers of primordial follicles are significantly lower than in controls
• however, numbers of primary follicles are not significantly altered, suggesting normal recruitment of the primordial follicles into the growing phase
• at 3 and 12 weeks of age, numbers of preantral follicles are significantly lower than in controls
• antral follicles gradually increase in number up to 6 weeks of age, but decline at 12 weeks due to depletion in the primordial and growing oocyte reserves
• at 3 weeks of age, numbers of antral follicles are significantly lower than in controls
• at 17 weeks of age, ovaries are completely devoid of all developing follicles
• at 3 and 6 weeks of age, ovarian follicles show a trend towards increased numbers of atretic follicles
(J:71679)
• multiple aspects of folliculogenesis are affected with defects in early primordial follicle survival as well as subsequent follicle growth (J:119191)
• starting at 16 weeks of age, ovaries contain one or more hemorrhagic ovarian cysts
• hemorrhagic cysts are regularly observed at 20 weeks and beyond
• by 12 weeks, many fragmented oocytes are seen in degenerating follicles
• females show a rapid decline of ovarian function starting in early postnatal life, with signs of premature follicle loss at 9 weeks and complete follicle depletion by 16 weeks of age
• at 12 weeks, hemorrhagic ovarian cysts become evident, and many fragmented oocytes are seen in degenerating follicles
• in female mice, age at onset of puberty (entry onto estrus) is 24.5 +/- 1.3 days versus 29.8 +/- 0.5 days for wild-type females
• 2-month-old females fail to undergo induced ovulation whereas 5- to 6-month-old females respond poorly to hormone treatment
• females prematurely enter and exit the estrous cycle; females enter persistent estrus at 50 +/- 1.5 days, whereas wild-type controls do not enter until ~465 days (15 months)
• window of normal cycling is small from an early onset at 24.5 +/- 1.3 days to a state of persistent estrus starting at 50 +/- 1.5 days
• older females spend the vast majority of time in estrus with sporadic and brief reentry into the estrous cycle
• females do not remain in estrus for periods of >3 days until 6-7 weeks of age, with persistent estrus occurring at 50 +/- 1.5 days
• females are infertile putatively due to impaired oocyte maturation and/or fertilization

cellular
• ovulated eggs obtained from mated females fail to divide in vitro (J:71679)
• young females display fragmented oocytes, poor oocyte quality, and gene expression profiles consistent with advanced oocyte age (J:156655)
• females show progressive and rapid loss of maturing oocytes; ovaries contain very few oocytes by 10 weeks of age and are completely devoid of oocytes at 17 weeks of age
• after treatment with estrogen, ovaries from 3-4-week-old females show increased granulosa cell apoptosis in preantral follicles, as determined by activated caspase 3 immunostaining and TUNEL assays
• granulosa cells show significantly impaired ability to proliferate in response to multiple hormonal stimuli in vivo, including exogenous stimulation with estrogen or PMSG or endogenously increased FSH levels

homeostasis/metabolism
• females exhibit high serum FSH levels as early as 3 weeks of age

growth/size/body
• starting at 16 weeks of age, ovaries contain one or more hemorrhagic ovarian cysts
• hemorrhagic cysts are regularly observed at 20 weeks and beyond

endocrine/exocrine glands
• after treatment with estrogen, ovaries from 3-4-week-old females show increased granulosa cell apoptosis in preantral follicles, as determined by activated caspase 3 immunostaining and TUNEL assays
• granulosa cells show significantly impaired ability to proliferate in response to multiple hormonal stimuli in vivo, including exogenous stimulation with estrogen or PMSG or endogenously increased FSH levels
• at 3, 6 and 12 weeks of age, numbers of primordial follicles are significantly lower than in controls
• however, numbers of primary follicles are not significantly altered, suggesting normal recruitment of the primordial follicles into the growing phase
• at 3 and 12 weeks of age, numbers of preantral follicles are significantly lower than in controls
• antral follicles gradually increase in number up to 6 weeks of age, but decline at 12 weeks due to depletion in the primordial and growing oocyte reserves
• at 3 weeks of age, numbers of antral follicles are significantly lower than in controls
• at 17 weeks of age, ovaries are completely devoid of all developing follicles
• at 3 and 6 weeks of age, ovarian follicles show a trend towards increased numbers of atretic follicles
(J:71679)
• multiple aspects of folliculogenesis are affected with defects in early primordial follicle survival as well as subsequent follicle growth (J:119191)
• starting at 16 weeks of age, ovaries contain one or more hemorrhagic ovarian cysts
• hemorrhagic cysts are regularly observed at 20 weeks and beyond
• by 12 weeks, many fragmented oocytes are seen in degenerating follicles
• females show a rapid decline of ovarian function starting in early postnatal life, with signs of premature follicle loss at 9 weeks and complete follicle depletion by 16 weeks of age
• at 12 weeks, hemorrhagic ovarian cysts become evident, and many fragmented oocytes are seen in degenerating follicles





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory