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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ccdc42tm1(KOMP)Vlcg
targeted mutation 1, Velocigene
MGI:3800251
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ccdc42tm1(KOMP)Vlcg/Ccdc42tm1(KOMP)Vlcg involves: C57BL/6J * C57BL/6NTac MGI:5816488


Genotype
MGI:5816488
hm1
Allelic
Composition
Ccdc42tm1(KOMP)Vlcg/Ccdc42tm1(KOMP)Vlcg
Genetic
Background
involves: C57BL/6J * C57BL/6NTac
Cell Lines 10362A-D12
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccdc42tm1(KOMP)Vlcg mutation (0 available); any Ccdc42 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• females exhibit normal fertility
• spermatids display a defect in flagella assembly
• although microtubular manchettes are present in elongating spermatids, no microtubule axonemes are observed from any of the HTCAs
• mice display defects in the head-tail coupling apparatus (HTCA, aka connecting piece)
• spermatids often exhibit multiple HTCAs or dislocation of the HTCA from its native implantation site
• numerous vesicles are present at the HTCA developmental sites, some of which contain dense material of unknown nature
• no assembly of axonemal microtubules emerge from any of the HTCAs, unlike in wild-type spermatids
• sperm lack an attached flagellum
• HTCAs do not appear to be initiate flagellogenesis
• mice are devoid of sperm in the epididymal lumen
• spermatids exhibit abnormal head shaping
• spermatids show aberrant in-folding of the acrosome-acroplaxome complex resulting in abnormal nuclear shaping
• mature spermatids show abortive acrosome development
• spermatids often display detached and degraded acrosomes
• spermatids exhibit abnormal nuclear shaping
• in mature degenerating spermatids, the nuclear envelope surrounding the condensed nucleus begins to rupture along with an abortive and detached acrosome-acroplaxome complex
• mitochondria are mislocalized and abnormally clustered around the nucleus
• mature spermatids exhibit abnormally shaped heads, lack flagella tails, and appear to degenerate within the testis
• at 8 weeks of age, mice exhibit both an absence of a lumen and spermatid flagella
• mice exhibit structural defects in spermiogenesis during formation of the flagellum
• mice show failure of spermiation and degradation of maturing spermatids within the testis
• at 8 weeks of age, mice exhibit a complete lack of sperm in the epididymal lumen, unlike wild-type controls
• only cellular debris is observed
• males are completely sterile
• however, mating behavior is normal, as determined by the presence of copulatory plugs

behavior/neurological
N
• although Ccdc42 is expressed in Purkinje cells of the wild-type cerebellum and other brain regions, mice do not exhibit any obvious developmental or behavioral deficits and show normal motor coordination in a rotarod test

cellular
• spermatids display a defect in flagella assembly
• although microtubular manchettes are present in elongating spermatids, no microtubule axonemes are observed from any of the HTCAs
• mice display defects in the head-tail coupling apparatus (HTCA, aka connecting piece)
• spermatids often exhibit multiple HTCAs or dislocation of the HTCA from its native implantation site
• numerous vesicles are present at the HTCA developmental sites, some of which contain dense material of unknown nature
• no assembly of axonemal microtubules emerge from any of the HTCAs, unlike in wild-type spermatids
• sperm lack an attached flagellum
• HTCAs do not appear to be initiate flagellogenesis
• mice are devoid of sperm in the epididymal lumen
• spermatids exhibit abnormal head shaping
• spermatids show aberrant in-folding of the acrosome-acroplaxome complex resulting in abnormal nuclear shaping
• mature spermatids show abortive acrosome development
• spermatids often display detached and degraded acrosomes
• spermatids exhibit abnormal nuclear shaping
• in mature degenerating spermatids, the nuclear envelope surrounding the condensed nucleus begins to rupture along with an abortive and detached acrosome-acroplaxome complex
• mitochondria are mislocalized and abnormally clustered around the nucleus
• mature spermatids exhibit abnormally shaped heads, lack flagella tails, and appear to degenerate within the testis

endocrine/exocrine glands
• at 8 weeks of age, mice exhibit both an absence of a lumen and spermatid flagella





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory