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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Qrich2em1Xdz
endonuclease-mediated mutation 1, Xu-Dong Zhao
MGI:6356346
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Qrich2em1Xdz/Qrich2em1Xdz involves: C57BL/6J MGI:6357843
ht2
Qrich2em1Xdz/Qrich2+ involves: C57BL/6J MGI:6357844


Genotype
MGI:6357843
hm1
Allelic
Composition
Qrich2em1Xdz/Qrich2em1Xdz
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Qrich2em1Xdz mutation (0 available); any Qrich2 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female homozygotes exhibit normal fertility
• H&E staining revealed flagellar formation defects at stages VI-VIII of spermatogenesis
• almost 100% of sperm display abnormal flagella by light microscopy
• SEM analysis revealed sperm flagella with short, coiled, bent, or other irregular shapes
• abnormal sperm flagellar morphology was confirmed by CASA
• TEM analysis showed disorganized arrangement of outer dense fibers (ODFs) in the midpiece and absence of ODFs in the principal piece.
• TEM analysis revealed an abnormal 9 + 2 structure (e.g. 6 + 2 structure) in the principal piece of numerous sperm tails
• TEM analysis revealed displacement of the central microtubules (CPs) and outer dense fiber (ODFs) and absence and/or incorrect localization of the outer microtubule doublets (ODs) in the midpiece of most flagella
• TEM analysis revealed the absence of ODs and ODFs in the principal piece
• an abnormal 9 + 2 structure (e.g. 6 + 2 structure) is observed in the principal piece of numerous sperm tails
• bent sperm flagella
• few spermatozoa (with aberrant flagella) are observed in cauda epididymis sections
• in epididymides and vas deferens, sperm concentration is significantly lower than in wild-type controls, as determined by CASA
• sperm progressive motility is significantly reduced, as determined by CASA
• sperm motility is significantly reduced, as determined by CASA; various sperm locomotion parameters, including curvilinear velocity (VCL), straight-line velocity (VSL), average path velocity (VAP), amplitude of lateral head displacement (ALH), linearity (LIN), wobble (WOB=VAP/VCL), straightness (STR,=VSL/VAP), and beat-cross frequency (BCF) are all significantly reduced
• epididymis size is significantly less than that of wild-type controls
• however, testis size and weight are normal
• epididymis weight is significantly less than that of wild-type controls
• male homozygotes are infertile

cellular
• H&E staining revealed flagellar formation defects at stages VI-VIII of spermatogenesis
• almost 100% of sperm display abnormal flagella by light microscopy
• SEM analysis revealed sperm flagella with short, coiled, bent, or other irregular shapes
• abnormal sperm flagellar morphology was confirmed by CASA
• TEM analysis showed disorganized arrangement of outer dense fibers (ODFs) in the midpiece and absence of ODFs in the principal piece.
• TEM analysis revealed an abnormal 9 + 2 structure (e.g. 6 + 2 structure) in the principal piece of numerous sperm tails
• TEM analysis revealed displacement of the central microtubules (CPs) and outer dense fiber (ODFs) and absence and/or incorrect localization of the outer microtubule doublets (ODs) in the midpiece of most flagella
• TEM analysis revealed the absence of ODs and ODFs in the principal piece
• an abnormal 9 + 2 structure (e.g. 6 + 2 structure) is observed in the principal piece of numerous sperm tails
• bent sperm flagella
• few spermatozoa (with aberrant flagella) are observed in cauda epididymis sections
• in epididymides and vas deferens, sperm concentration is significantly lower than in wild-type controls, as determined by CASA
• sperm progressive motility is significantly reduced, as determined by CASA
• sperm motility is significantly reduced, as determined by CASA; various sperm locomotion parameters, including curvilinear velocity (VCL), straight-line velocity (VSL), average path velocity (VAP), amplitude of lateral head displacement (ALH), linearity (LIN), wobble (WOB=VAP/VCL), straightness (STR,=VSL/VAP), and beat-cross frequency (BCF) are all significantly reduced




Genotype
MGI:6357844
ht2
Allelic
Composition
Qrich2em1Xdz/Qrich2+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Qrich2em1Xdz mutation (0 available); any Qrich2 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• most sperm flagella exhibit normal morphology, with no significant difference in the number of abnormal sperm tails relative to wild-type controls
• in epididymides and vas deferens, sperm concentration is significantly lower than in wild-type controls, as determined by CASA
• sperm progressive motility is significantly reduced, as determined by CASA
• sperm motility is significantly reduced relative to that in wild-type controls, as determined by CASA; curvilinear velocity (VCL), straight-line velocity (VSL), average path velocity (VAP), amplitude of lateral head displacement (ALH), and beat-cross frequency (BCF) are all significantly reduced

cellular
• in epididymides and vas deferens, sperm concentration is significantly lower than in wild-type controls, as determined by CASA
• sperm progressive motility is significantly reduced, as determined by CASA
• sperm motility is significantly reduced relative to that in wild-type controls, as determined by CASA; curvilinear velocity (VCL), straight-line velocity (VSL), average path velocity (VAP), amplitude of lateral head displacement (ALH), and beat-cross frequency (BCF) are all significantly reduced





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory