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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Akap4tm1Eddy
targeted mutation 1, Edward M Eddy
MGI:2684287
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Akap4tm1Eddy/Akap4+ involves: 129S6/SvEvTac * C57BL/6 MGI:2684290
ot2
Akap4tm1Eddy/Y involves: 129S6/SvEvTac * C57BL/6 MGI:2684289


Genotype
MGI:2684290
ht1
Allelic
Composition
Akap4tm1Eddy/Akap4+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akap4tm1Eddy mutation (0 available); any Akap4 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female heterozygotes are fertile




Genotype
MGI:2684289
ot2
Allelic
Composition
Akap4tm1Eddy/Y
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akap4tm1Eddy mutation (0 available); any Akap4 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• hemizygous mutant males display sperm flagellum abnormalities
• the distal tip of mutant sperm flagella is sometimes curled or splayed apart in several fine filaments
• the size and integrity of mutant mitochondrial sheaths is reduced
• however, other cytoskeletal structures, the outer dense fibers and axoneme remain intact
• although a fibrous sheath anlagen is formed, the definitive fibrous sheath fails to develop fully, and proteins usually associated with the fibrous sheath are absent or substantially reduced in amount
• the principle piece of mutant sperm flagella is reduced in diameter relative to that of wild-type flagella
• mutant sperm flagella are sometimes curled at the tip
• although the midpiece length of mutant cauda sperm flagella is similar to that of wild-type mice, the length of the remaining flagellum is ~50% of wild-type sperm
• in addition, mutant caput sperm flagella are shorter than wild-type
• all hemizygous mutant males are infertile
• although GAPDS (glyceraldehyde 3-phosphate dehydrogenase-S) is present in the spermatids of mutant mice, it fails to accumulate in the flagellum or become incorporated into the fibrous sheath, suggesting that sperm flagellum glycolysis is disrupted
• less than 10% of mutant sperm are motile, exhibiting a sluggish flagellar motion of low amplitude with no forward progression
• notably, total number and viability of mutant epididymal sperm remain unaffected
• addition of 5 mM dibutyryl cAMP to mutant sperm at 4 hrs (but not at 10 min) after isolation increases the % of motile sperm to 34%; however, the rate and nature of flaggelar activity is similar to that of untreated mutant sperm
• unlike wild-type sperm where incubation in M16 nedium for 2 hrs results in hyperactivated motility, mutant sperm show no change in the pattern or incidence of motility

cellular
• hemizygous mutant males display sperm flagellum abnormalities
• the distal tip of mutant sperm flagella is sometimes curled or splayed apart in several fine filaments
• the size and integrity of mutant mitochondrial sheaths is reduced
• however, other cytoskeletal structures, the outer dense fibers and axoneme remain intact
• although a fibrous sheath anlagen is formed, the definitive fibrous sheath fails to develop fully, and proteins usually associated with the fibrous sheath are absent or substantially reduced in amount
• the principle piece of mutant sperm flagella is reduced in diameter relative to that of wild-type flagella
• mutant sperm flagella are sometimes curled at the tip
• although the midpiece length of mutant cauda sperm flagella is similar to that of wild-type mice, the length of the remaining flagellum is ~50% of wild-type sperm
• in addition, mutant caput sperm flagella are shorter than wild-type
• less than 10% of mutant sperm are motile, exhibiting a sluggish flagellar motion of low amplitude with no forward progression
• notably, total number and viability of mutant epididymal sperm remain unaffected
• addition of 5 mM dibutyryl cAMP to mutant sperm at 4 hrs (but not at 10 min) after isolation increases the % of motile sperm to 34%; however, the rate and nature of flaggelar activity is similar to that of untreated mutant sperm
• unlike wild-type sperm where incubation in M16 nedium for 2 hrs results in hyperactivated motility, mutant sperm show no change in the pattern or incidence of motility





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