About   Help   FAQ
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





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
05/07/2024
MGI 6.23
The Jackson Laboratory