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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ythdc2em3Sky
endonuclease-mediated mutation 3, Scott Keeney
MGI:8253161
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Ythdc2em3Sky/Ythdc2+ C57BL/6J-Ythdc2em3Sky MGI:8253259
ht2
Ythdc2em1Sky/Ythdc2em3Sky involves: C57BL/6J * CBA MGI:8253261


Genotype
MGI:8253259
ht1
Allelic
Composition
Ythdc2em3Sky/Ythdc2+
Genetic
Background
C57BL/6J-Ythdc2em3Sky
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ythdc2em3Sky mutation (0 available); any Ythdc2 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• 11- to 15-week-old female heterozygotes are fertile and show normal folliculogenesis with presence of early and secondary follicles, antral follicles, and multiple corpus lutea
• 14- to 15-week-old males show azoospermia
• seminiferous tubules lack postmeiotic elongated spermatids at 9 weeks of age
• seminiferous tubules lack postmeiotic round spermatids at 9 weeks of age
• seminiferous tubules from 9-week-old males contain meiotic spermatocytes but lack postmeiotic round and elongated spermatids
• early prophase I stages (leptonema/zygonema) are present but meiotic prophase I progression is blocked during late pachynema and/or diplonema
• no cells containing abnormally condensed metaphase-like chromosomes are detected in adult males
• pH3 staining shows that luminally located metaphase (pH3-positive) cells are absent or extremely rare from 14 dpp to 24 dpp and at later ages, indicating the lack of a premature metaphase entry phenotype
• TUNEL staining shows a significant increase in the % of tubules containing 10 or more apoptotic cells at 16 dpp and later ages, including adulthood
• however, no rampant apoptosis is detected during early ages (8, 10, and 14 dpp)
• from 16 dpp onward, fewer seminiferous tubules contain one layer of cells in late pachynema/diplonema plus a new layer in leptonema/zygonema (1% at 16 dpp vs 18% in wild-type controls); when present, these tubules have significantly fewer cells in the late pachytene/diplotene layer
• pachytene cells are depleted in some tubules with a single pachytene layer while abnormal tubules also contain dying cells with fragmented and intense SYCP3 staining from 16 dpp onward
• tubules containing round or elongating spermatids are absent
• adult testis weight-to-body weight ratios are 33.5% smaller than in littermate controls
• 14- to 15-week-old males show testicular atrophy
• male heterozygotes are sterile; none of 7 males tested sire offspring when bred with wild-type females for >14 weeks

endocrine/exocrine glands
• from 16 dpp onward, fewer seminiferous tubules contain one layer of cells in late pachynema/diplonema plus a new layer in leptonema/zygonema (1% at 16 dpp vs 18% in wild-type controls); when present, these tubules have significantly fewer cells in the late pachytene/diplotene layer
• pachytene cells are depleted in some tubules with a single pachytene layer while abnormal tubules also contain dying cells with fragmented and intense SYCP3 staining from 16 dpp onward
• tubules containing round or elongating spermatids are absent
• adult testis weight-to-body weight ratios are 33.5% smaller than in littermate controls
• 14- to 15-week-old males show testicular atrophy

cellular
• 14- to 15-week-old males show azoospermia
• seminiferous tubules lack postmeiotic elongated spermatids at 9 weeks of age
• seminiferous tubules lack postmeiotic round spermatids at 9 weeks of age
• seminiferous tubules from 9-week-old males contain meiotic spermatocytes but lack postmeiotic round and elongated spermatids
• early prophase I stages (leptonema/zygonema) are present but meiotic prophase I progression is blocked during late pachynema and/or diplonema
• no cells containing abnormally condensed metaphase-like chromosomes are detected in adult males
• pH3 staining shows that luminally located metaphase (pH3-positive) cells are absent or extremely rare from 14 dpp to 24 dpp and at later ages, indicating the lack of a premature metaphase entry phenotype
• TUNEL staining shows a significant increase in the % of tubules containing 10 or more apoptotic cells at 16 dpp and later ages, including adulthood
• however, no rampant apoptosis is detected during early ages (8, 10, and 14 dpp)




Genotype
MGI:8253261
ht2
Allelic
Composition
Ythdc2em1Sky/Ythdc2em3Sky
Genetic
Background
involves: C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ythdc2em1Sky mutation (0 available); any Ythdc2 mutation (58 available)
Ythdc2em3Sky mutation (0 available); any Ythdc2 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• seminiferous tubules lack postmeiotic elongated spermatids at 9 weeks of age
• seminiferous tubules lack postmeiotic round spermatids at 9 weeks of age
• meiotic progression is arrested during late pachynema
• no cells containing abnormally condensed metaphase-like chromosomes are detected and pH3-positive luminally located metaphase cells are absent or extremely rare
• TUNEL staining shows a significant increase in the % of tubules containing 10 or more apoptotic cells at 8-9 weeks of age
• adult seminiferous tubules are devoid of postmeiotic cells
• largely empty tubules containing early spermatogenic cells and cells with compacted apoptotic-like nuclei are present alongside tubules containing meiotic spermatocytes, suggesting that cells can progress into prophase I but likely arrest after meiotic entry
• fewer tubules contain a single pachytene layer (47%-51% vs 86%92% in wild-type with an additional spermatid layer) and no tubules contain one layer of late pachynema/diplonema plus a layer in leptonema/zygonema (0% vs 8%-14% in wild-type with an additional spermatid layer)
• adult testis weight-to-body weight ratios are 33.4% smaller than in littermate controls
• none of 4 females paired with wild-type males for 13 weeks led to pregnancies or birth of offspring
• none of 3 males paired with wild-type females for 5 weeks led to pregnancies or birth of offspring

endocrine/exocrine glands
• adult seminiferous tubules are devoid of postmeiotic cells
• largely empty tubules containing early spermatogenic cells and cells with compacted apoptotic-like nuclei are present alongside tubules containing meiotic spermatocytes, suggesting that cells can progress into prophase I but likely arrest after meiotic entry
• fewer tubules contain a single pachytene layer (47%-51% vs 86%92% in wild-type with an additional spermatid layer) and no tubules contain one layer of late pachynema/diplonema plus a layer in leptonema/zygonema (0% vs 8%-14% in wild-type with an additional spermatid layer)
• adult testis weight-to-body weight ratios are 33.4% smaller than in littermate controls

cellular
• seminiferous tubules lack postmeiotic elongated spermatids at 9 weeks of age
• seminiferous tubules lack postmeiotic round spermatids at 9 weeks of age
• meiotic progression is arrested during late pachynema
• no cells containing abnormally condensed metaphase-like chromosomes are detected and pH3-positive luminally located metaphase cells are absent or extremely rare
• TUNEL staining shows a significant increase in the % of tubules containing 10 or more apoptotic cells at 8-9 weeks of age





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last database update
09/30/2025
MGI 6.24
The Jackson Laboratory