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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Efcab9em1Chng
endonuclease-mediated mutation 1, Jean-Ju Chung
MGI:6356320
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Efcab9em1Chng/Efcab9em1Chng involves: C57BL/6 MGI:6478826
cx2
Catsperztm1(KOMP)Mbp/Catsperztm1(KOMP)Mbp
Efcab9em1Chng/Efcab9em1Chng
involves: C57BL/6 * C57BL/6N MGI:6478832


Genotype
MGI:6478826
hm1
Allelic
Composition
Efcab9em1Chng/Efcab9em1Chng
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efcab9em1Chng mutation (0 available); any Efcab9 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• spermatozoa display stiff flagella with a fixed curvature from the midpiece to the proximal region of the principal piece
• majority of sperm retain an anti-hook bend compared to pro-hook bending in controls; pro-hook and anti-hook bends refer to the primary flagellar bend in the same or the opposite direction to the hook of the head, respectively
• sperm flagella shows altered surface nanoarchitecture
• litters sired by homozygous males are smaller than litters sired by heterozygous males and pregnancy rate of males is 36% compared to 100% for heterozygotes indicating male subfertility
• however, males show no differences in mounting behaviors or plug formation and epididymal sperm counts are normal
• in vitro fertilization rate with mutant sperm is reduced
• however, females show normal mating behavior and give birth to litters when mated with wild-type or heterozygous males
• beat frequency of sperm is faster than in heterozygotes; however, capacitation does not change beat frequency as is seen in controls
• spermatozoa have a lower basal level of intracellular calcium and aberrant calcium homeostasis
• initial total motility of sperm is lower by 10% than those of wild-type sperm before capacitation
• motility of sperm is reduced faster than in wild-type when intracellular calcium is reduced by BAPTA-AM under non-capacitating conditions
• sperm take a longer time to recover motility than wild-type mice when extracellular calcium is brought under capacitating conditions in intracellular calcium chelated sperm
• during intracellular calcium chelation, sperm remain bent at a fixed direction with stiff proximal tails while recovering motility

cellular
• spermatozoa display stiff flagella with a fixed curvature from the midpiece to the proximal region of the principal piece
• majority of sperm retain an anti-hook bend compared to pro-hook bending in controls; pro-hook and anti-hook bends refer to the primary flagellar bend in the same or the opposite direction to the hook of the head, respectively
• sperm flagella shows altered surface nanoarchitecture
• initial total motility of sperm is lower by 10% than those of wild-type sperm before capacitation
• motility of sperm is reduced faster than in wild-type when intracellular calcium is reduced by BAPTA-AM under non-capacitating conditions
• sperm take a longer time to recover motility than wild-type mice when extracellular calcium is brought under capacitating conditions in intracellular calcium chelated sperm
• during intracellular calcium chelation, sperm remain bent at a fixed direction with stiff proximal tails while recovering motility




Genotype
MGI:6478832
cx2
Allelic
Composition
Catsperztm1(KOMP)Mbp/Catsperztm1(KOMP)Mbp
Efcab9em1Chng/Efcab9em1Chng
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Catsperztm1(KOMP)Mbp mutation (0 available); any Catsperz mutation (12 available)
Efcab9em1Chng mutation (0 available); any Efcab9 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• sperm fail to develop hyperactivated motility
• males are severely subfertile with an approximate 33% pregnancy rate in mating studies

cellular
• sperm fail to develop hyperactivated motility





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