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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tnfaip6tm1Cful
targeted mutation 1, Csaba Fulop
MGI:2654926
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tnfaip6tm1Cful/Tnfaip6tm1Cful involves: 129S6/SvEvTac * BALB/c MGI:2654933


Genotype
MGI:2654933
hm1
Allelic
Composition
Tnfaip6tm1Cful/Tnfaip6tm1Cful
Genetic
Background
involves: 129S6/SvEvTac * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnfaip6tm1Cful mutation (1 available); any Tnfaip6 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• although mutant preovulatory follicles do form at 48 hrs after PMSG treatment, they fail to display normal cumulus mucification at 10 hrs after induction of ovulation by hCG injection
• only faint hyaluronan staining is detected at 10 hrs after hCG injection, suggesting that mutant cumulus cells synthesize hyaluronan but are unable to organize it into an extracellular matrix
• after ovulation (13.5 hrs after hCG injection), cumulus cell-oocyte complexes (COCs) from control females show normal cumulus expansion, while most oocytes from homozygotes lack a cumulus layer, and are either completely nude or weakly associated with a loose network of granulosa/cumulus cells
• in vitro, mutant COCs obtained from PMSG-primed female homozygotes also fail to expand upon stimulation with dibutyryl cyclic AMP or epidermal growth factor (EGF), and shed most of their cumulus cells
• impaired cumulus matrix formation is due to the absence of covalent complexes between hyaluronan and the heavy chains of the inter-alpha-trypsin inhibitor family
• notably, recombinant TNFAIP6 catalyzes the covalent transfer of heavy chains to hyaluronan in a cell-free system, restores the expansion of mutant COCs in vitro, and rescues fertility in female homozygotes
• after superovulation with consecutive injections of PMSG and hCG, the average number of oocytes recovered from the oviducts of female homozygotes (142, n=8) is significantly lower than that from wild-type (2910, n=8) or heterozygous littermates (3212, n=12)
• however, 12-wk-old female homozygotes appear to be able to ovulate under normal endocrine conditions, as indicated by the presence of corpora lutea
• female homozygotes are sterile as a result of impaired cumulus matrix formation
• in contrast, both female heterozygotes and male homozygotes are fertile
• in vivo, oocytes from superovulated female homozygotes mated with wild-type males fail to reach the two-cell stage

endocrine/exocrine glands
• although mutant preovulatory follicles do form at 48 hrs after PMSG treatment, they fail to display normal cumulus mucification at 10 hrs after induction of ovulation by hCG injection
• only faint hyaluronan staining is detected at 10 hrs after hCG injection, suggesting that mutant cumulus cells synthesize hyaluronan but are unable to organize it into an extracellular matrix
• after ovulation (13.5 hrs after hCG injection), cumulus cell-oocyte complexes (COCs) from control females show normal cumulus expansion, while most oocytes from homozygotes lack a cumulus layer, and are either completely nude or weakly associated with a loose network of granulosa/cumulus cells
• in vitro, mutant COCs obtained from PMSG-primed female homozygotes also fail to expand upon stimulation with dibutyryl cyclic AMP or epidermal growth factor (EGF), and shed most of their cumulus cells
• impaired cumulus matrix formation is due to the absence of covalent complexes between hyaluronan and the heavy chains of the inter-alpha-trypsin inhibitor family
• notably, recombinant TNFAIP6 catalyzes the covalent transfer of heavy chains to hyaluronan in a cell-free system, restores the expansion of mutant COCs in vitro, and rescues fertility in female homozygotes

immune system
• following OVA sensitization and aerosol challenge, mutants exhibit reduced airway inflammation, with reduced total leukocytes, airway eosinophils and macrophages
• however, humoral and cellular Th2 responses are normal
• reduction in pulmonary hyaluronan deposition following OVA aerosol challenge in OVA-immunized mice during induction of allergic pulmonary inflammation
• bronchoalveolar lavage hyaluronan levels in OVA/alum-immunized mice are reduced by about 30%

respiratory system
• mutants are resistant to the induction of airway hyperresponsiveness and show improved lung mechanics in response to metacholine challenge





Contributing Projects:
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
01/18/2022
MGI 6.17
The Jackson Laboratory