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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tmem249em1Osb
endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
MGI:7495499
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tmem249em1Osb/Tmem249em1Osb involves: C57BL/6 * DBA/2 MGI:7538859


Genotype
MGI:7538859
hm1
Allelic
Composition
Tmem249em1Osb/Tmem249em1Osb
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmem249em1Osb mutation (0 available); any Tmem249 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• females produce normal litter sizes when mated to wild-type or heterozygous males
• males show no differences in testis histology, epididymal sperm count or sperm morphology relative to wild-type males
• co-immunoprecipitation with anti-CATSPER1 antibody showed that, unlike all the other CatSper subunits examined, the protein level of CATSPER4 in the CatSper complex is significantly reduced in solubilized testis microsomes
• however, testicular levels of CATSPER1 and CATSPERB are normal in testis microsomes
• CatSper components fail to exit the cell body and be targeted to the spermatid flagella; at step 10-12 of developing spermatids, CATSPER1 signal is only present in the cell body, unlike in wild-type spermatids where CATSPER1 is found in both the cell body and the prospective principal piece of the sperm flagellum
• assembly of CATSPER4 into the CatSper complex is reduced but not completely abolished in spermatids; remaining CATSPER4-containing CatSper complex is still unable to leave the cell body to reach the sperm flagella
• no litters are produced when males are mated to wild-type or heterozygous females
• spermatozoa are unable to fertilize cumulus-oocyte complex (COC)-intact oocytes in vitro
• cauda epididymal sperm exhibit absent or barely detectable protein levels of other CatSper subunits and completely lack ICatSper, the sperm-specific and pH-sensitive ion current mediated by the CatSper channel
• under capacitating conditions, activated cauda epididymal sperm exhibit a circulating swim path whereas wild-type sperm swim relatively straight
• CASA showed that progressive motility is dramatically decreased under capacitation conditions
• CASA showed that total motility is dramatically decreased under capacitation conditions
• flagellar waveform analysis showed that capacitated sperm fail to develop hyperactivation whereas wild-type sperm develop asymmetric beating with increased amplitude
• velocity of curvilinear (VCL), average path velocity (VAP), and straight-line velocity (VSL) are significantly reduced, consistent with defective hyperactivation

cellular
• under capacitating conditions, activated cauda epididymal sperm exhibit a circulating swim path whereas wild-type sperm swim relatively straight
• CASA showed that progressive motility is dramatically decreased under capacitation conditions
• CASA showed that total motility is dramatically decreased under capacitation conditions
• flagellar waveform analysis showed that capacitated sperm fail to develop hyperactivation whereas wild-type sperm develop asymmetric beating with increased amplitude
• velocity of curvilinear (VCL), average path velocity (VAP), and straight-line velocity (VSL) are significantly reduced, consistent with defective hyperactivation

endocrine/exocrine glands
• co-immunoprecipitation with anti-CATSPER1 antibody showed that, unlike all the other CatSper subunits examined, the protein level of CATSPER4 in the CatSper complex is significantly reduced in solubilized testis microsomes
• however, testicular levels of CATSPER1 and CATSPERB are normal in testis microsomes





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory