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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Cfbtm1Hrc
targeted mutation 1, Harvey R Colten
MGI:1861129
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Cfbtm1Hrc/Cfbtm1Hrc involves: 129S/Sv MGI:3771614
hm2
 		Cfbtm1Hrc/Cfbtm1Hrc involves: 129S/Sv * C57BL/6 MGI:2176509
cx3
 		Cfbtm1Hrc/Cfbtm1Hrc
Cfhtm1Mbo/Cfhtm1Mbo 		involves: 129S/Sv * C57BL/6 MGI:2662552
cx4
 		Cfbtm1Hrc/Cfb+
Cfhtm1Mbo/Cfhtm1Mbo 		involves: 129S/Sv * C57BL/6 MGI:3845066


Genotype
MGI:3771614
hm1
Allelic
Composition		 Cfbtm1Hrc/Cfbtm1Hrc
Genetic
Background		 involves: 129S/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfbtm1Hrc mutation (1 available); any Cfb mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
impaired complement classical pathway ( J:130108 )
• antibody-mediated complement of sera is severely impaired as measured by C3 activation in the presence of OVA and anti-OVA immunoglobulins
decreased susceptibility to Coronaviridae infection ( J:286325 )
• mice show some protection from intranasal infection with the mouse-adapted SARS-CoV MA15 , showing less weight loss than in wild-type controls, but more weight loss than in C3tm1Crr homozygotes




Genotype
MGI:2176509
hm2
Allelic
Composition		 Cfbtm1Hrc/Cfbtm1Hrc
Genetic
Background		 involves: 129S/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfbtm1Hrc mutation (1 available); any Cfb mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal complement pathway ( J:42679 )
• total hemolytic complement activation was reduced 50% in mutant sera
impaired complement alternative pathway ( J:42679 )
• serum from mutant mice showed no evidence of C3 deposition on zymosan
• serum from mutant mice did not support in vitro cleavage of C3 by cobra venom factor
• alternative pathway-dependent hemolytic activity was undetectable in mutant serum

reproductive system
reduced fertility ( J:42679 )
• partial penetrance; only seen in mice derived from one of four ES cell clones
• this effect is most evident in the F1 generation and it appears to be lost upon breeding to the C57BL/6 strain




Genotype
MGI:2662552
cx3
Allelic
Composition		 Cfbtm1Hrc/Cfbtm1Hrc
Cfhtm1Mbo/Cfhtm1Mbo
Genetic
Background		 involves: 129S/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfbtm1Hrc mutation (1 available); any Cfb mutation (29 available)
Cfhtm1Mbo mutation (0 available); any Cfh mutation (95 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:78193 )
• at 2 months of age, double homozygotes have normal amounts of plasma C3, with no evidence of capillary wall glomerular C3 deposition and subendothelial electron-dense deposits
• unlike Cfhtm1Mbo mice, double homozygotes show normal kidney histology and function with no evidence of GBM abnormalities at 8 months of age
• also unlike Cfhtm1Mbo mice which develop severe renal disease within 5 days of receiving sheep nephrotoxic serum (NTS), double homozygotes remain healthy at this stage




Genotype
MGI:3845066
cx4
Allelic
Composition		 Cfbtm1Hrc/Cfb+
Cfhtm1Mbo/Cfhtm1Mbo
Genetic
Background		 involves: 129S/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfbtm1Hrc mutation (1 available); any Cfb mutation (29 available)
Cfhtm1Mbo mutation (0 available); any Cfh mutation (95 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased circulating complement protein level ( J:78193 )
• at 2 months of age, mutant mice show undetectable plasma C3 levels

renal/urinary system
renal glomerular protein deposits ( J:78193 )
• at 2 months of age, mutant mice exhibit both capillary wall glomerular C3 deposition and subendothelial electron-dense deposits

homeostasis/metabolism
decreased circulating complement protein level ( J:78193 )
• at 2 months of age, mutant mice show undetectable plasma C3 levels




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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory