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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gmcl1tm1Nkn
targeted mutation 1, Toru Nakano
MGI:2450853
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gmcl1tm1Nkn/Gmcl1tm1Nkn involves: 129S2/SvPas * C57BL/6 MGI:2450857


Genotype
MGI:2450857
hm1
Allelic
Composition
Gmcl1tm1Nkn/Gmcl1tm1Nkn
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gmcl1tm1Nkn mutation (1 available); any Gmcl1 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• multinucleated giant sperm with multiple heads and flagella are observed
• giant sperm are putatively caused by unsuccessful cell separation at the final stage of spermiogenesis
• sperm motility is decreased and the path velocity of motile sperm is reduced
• homozygotes display defects in nuclear architecture, abnormal sperm morphology, and aberrant expression of transition proteins and protamines involved in chromatin remodeling during spermatogenesis
• the number of sperm in the cauda epididymides of mutant males is slightly lower than that of wild-type males
• ectopic attachment of the sperm flagellum is frequently observed
• mutant sperm frequently lack flagella
• multinucleated giant sperm with multiple heads and flagella are observed
• ~60% of mutant sperm display abnormal head morphology, including blunt acrosomes, ectopic attachment of the flagellum, round heads, or narrowed heads
• strikingly, multinucleated giant sperm with multiple heads and flagella are also observed; several sperm heads are found embedded within a large cytoplasm that bundles up the flagella
• the acrosomes of mutant sperm are curled; blunt acrosomes are frequently observed
• the cytoplasmic components, such as mitochondria, are retained in an abnormal fashion around the acrosome
• round sperm heads are frequently observed
• mutant sperm nuclei display incomplete chromatin condensation
• multinucleated giant sperm with multiple heads and flagella are observed; several sperm heads are found embedded within a large cytoplasm that bundles up the flagella
• mutant pachytene and diplotene spermatocytes display aberrantly shaped nuclei with deep invaginations of the cytoplasm, and an abnormal distribution of the nuclear pore complex (NPC) often found to assemble at the bottom of invaginated nuclear envelopes
• at step 9, mutant elongating spermatids display abnormal nuclear structures; the cytoplasm is invaginated into elongating nuclei which are frequently accompanied by bundles of microtubules
• at step 15, mutant spermatids exhibit nucleoplasm extrusions from the condensed nucleus
• at step 16 (spermiation), numerous multinucleated cells are found in the luminal side of the seminiferous epithelium in stage VIII tubules, but not in tubules at earlier stages
• at this stage, incomplete separation of nuclei from the cytoplasm and widening of the intercellular bridges is also observed
• the average litter size of fertile male homozygotes is significantly smaller than that of wild-type males (4.5 1.9, vs 7.9 2.0, respectively)
• only 6 of 14 male homozygotes are able to sire offspring, indicating a significant reduction in male fertility
• however, mating behavior and copulatory plug formation appear unaffected, and female fertility is intact

cellular
• the number of sperm in the cauda epididymides of mutant males is slightly lower than that of wild-type males
• ectopic attachment of the sperm flagellum is frequently observed
• mutant sperm frequently lack flagella
• multinucleated giant sperm with multiple heads and flagella are observed
• ~60% of mutant sperm display abnormal head morphology, including blunt acrosomes, ectopic attachment of the flagellum, round heads, or narrowed heads
• strikingly, multinucleated giant sperm with multiple heads and flagella are also observed; several sperm heads are found embedded within a large cytoplasm that bundles up the flagella
• the acrosomes of mutant sperm are curled; blunt acrosomes are frequently observed
• the cytoplasmic components, such as mitochondria, are retained in an abnormal fashion around the acrosome
• round sperm heads are frequently observed
• mutant sperm nuclei display incomplete chromatin condensation
• multinucleated giant sperm with multiple heads and flagella are observed; several sperm heads are found embedded within a large cytoplasm that bundles up the flagella
• mutant pachytene and diplotene spermatocytes display aberrantly shaped nuclei with deep invaginations of the cytoplasm, and an abnormal distribution of the nuclear pore complex (NPC) often found to assemble at the bottom of invaginated nuclear envelopes
• multinucleated giant sperm with multiple heads and flagella are observed
• giant sperm are putatively caused by unsuccessful cell separation at the final stage of spermiogenesis
• most liver and exocrine pancreas cells display irregularly shaped nuclei instead of the circular or ovoid-shaped nuclei observed in wild-type mice; however, no functional abnormalities are detected in either the liver or exocrine pancreas
• mutant pachytene and diplotene spermatocytes display irregular nuclear structures and abnormal distribution of nuclear envelope components
• abnormal nuclear morphology is also observed in the later stages of spermiogenesis
• sperm motility is decreased and the path velocity of motile sperm is reduced





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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory