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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lrrc46em1Cya
endonuclease-mediated mutation 1, Cyagen Biosciences
MGI:7366928
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lrrc46em1Cya/Lrrc46em1Cya C57BL/6N-Lrrc46em1Cya MGI:7367524


Genotype
MGI:7367524
hm1
Allelic
Composition
Lrrc46em1Cya/Lrrc46em1Cya
Genetic
Background
C57BL/6N-Lrrc46em1Cya
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrrc46em1Cya mutation (0 available); any Lrrc46 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• no motile spermatozoa are seen in mice, with path velocity, progressive velocity, and track speed of spermatozoa reduced to 0
• sperm show abnormal head shaping development
• although no differences in sperm head shaping from the Golgi apparatus period to the capping period (step 1 to step 8) are seen, major morphological differences in sperm head are seen during acrosomal migration (steps 9-13) and the chromatin condensation period (steps 14-16)
• even though head shaping is initiated at step 9 and step 10 and elongated spermatid head morphology is fairly normal, during steps 11-18 of the spermatid head shaping period, sperm present abnormal, hook-shaped heads
• flagella is absent in developing spermatids in the seminiferous tubules
• sperm exhibit multiple morphological abnormalities of the sperm flagella (MMAF) phenotypes, with higher percentage of short, coiled, irregular, or absent flagella
• sperm flagellum shows disarrangement and hyperplasia of outer dense fibers
• the central pair microtubule structure is absent or disrupted in the flagellum
• various peri-axonemal microtubule components are distorted and nine double microtubule doublets split with each other
• sperm flagellum shows hypertrophy and hyperplasia of mitochondria
• only a few spermatozoa are detected in the epididymal lumen and some dead cells are seen in the seminiferous tubules
• sperm count is decreased in the caudal epididymis
• sperm exhibit a variety of abnormal head shapes
• abnormally elongated and constricted sperm head shapes in seminiferous tubules
• some mature spermatozoa with head defects are seen in the stage IX seminiferous tubules
• detachment of the acrosome from the nuclear envelope from step 11 to step 16 in the flagella, indicating acrosomal defects
• manchette formation is normal in step 8 spermatids, however step 9-13 spermatids have abnormally long and deformed manchettes, indicating abnormal spermatozoa manchette formation from step 8-13
• spermatids have abnormally long manchettes at step 9-13 of sperm development
• males mated with wild-type females produce no pups indicating male infertility
• however, males show no differences in testis size or weight and females exhibit normal fertility

cellular
• sperm exhibit multiple morphological abnormalities of the sperm flagella (MMAF) phenotypes, with higher percentage of short, coiled, irregular, or absent flagella
• sperm flagellum shows disarrangement and hyperplasia of outer dense fibers
• the central pair microtubule structure is absent or disrupted in the flagellum
• various peri-axonemal microtubule components are distorted and nine double microtubule doublets split with each other
• sperm flagellum shows hypertrophy and hyperplasia of mitochondria
• only a few spermatozoa are detected in the epididymal lumen and some dead cells are seen in the seminiferous tubules
• sperm count is decreased in the caudal epididymis
• sperm exhibit a variety of abnormal head shapes
• abnormally elongated and constricted sperm head shapes in seminiferous tubules
• some mature spermatozoa with head defects are seen in the stage IX seminiferous tubules
• detachment of the acrosome from the nuclear envelope from step 11 to step 16 in the flagella, indicating acrosomal defects
• manchette formation is normal in step 8 spermatids, however step 9-13 spermatids have abnormally long and deformed manchettes, indicating abnormal spermatozoa manchette formation from step 8-13
• spermatids have abnormally long manchettes at step 9-13 of sperm development
• no motile spermatozoa are seen in mice, with path velocity, progressive velocity, and track speed of spermatozoa reduced to 0





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory