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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fbn2tm1Rmz
targeted mutation 1, Francesco Ramirez
MGI:2445938
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fbn2tm1Rmz/Fbn2tm1Rmz either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6J) MGI:3652413
hm2
Fbn2tm1Rmz/Fbn2tm1Rmz involves: 129S/SvEv MGI:4850046
cx3
Bmp7tm1Rob/Bmp7+
Fbn2tm1Rmz/Fbn2+
either: (involves: 129/Sv * 129S/SvEv) or (involves: 129/Sv * 129S/SvEv * C57BL/6J) MGI:3641531
cx4
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129 MGI:3652415
cx5
Fbn1tm3Rmz/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129 MGI:3652417
cx6
Fbn1tm1.2Lysa/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129/Sv * C57BL/6 MGI:4839090


Genotype
MGI:3652413
hm1
Allelic
Composition
Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic
Background
either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Bilateral syndactyly in Fbn2tm1Rmz/Fbn2tm1Rmz mice

limbs/digits/tail
• at E13.5 decreased apoptosis is seen in the interdigital rays
• malformed at E13.5 before the appearance of interdigital cell death
• bilateral syndactyly involving the central 2 or 3 digits of both the hind and fore paws and always involving the first phalange

skeleton
• newborns have contractures of the carpal, metacarpal, and phalangeal joints in the forelimbs; however these disappear within the first few days of life
• large joints of the hindlimbs appear to be stiffer compared to wild-type littermates

respiratory system
N
• branching morphogenesis of the lungs is normal

cellular
• at E13.5 decreased apoptosis is seen in the interdigital rays

Mouse Models of Human Disease
OMIM ID Ref(s)
Arthrogryposis, Distal, Type 9; DA9 121050 J:70592




Genotype
MGI:4850046
hm2
Allelic
Composition
Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Experimental osteolysis occurs more extensively in Fbn1tm3Rmz/Fbn1tm3Rmz mice

skeleton
• mutants exhibit 27% less bone mass by 3 months of age
• mutants exhibit a 55% reduction in bone formation rate by 3 months of age
• mutants show greater than normal osteolytic response to locally implanted lipopolysaccharide-coated titanium particles
• isolated mutant preosteoclasts cultured with mutant osteoblasts exhibit augmented differentation and activity, indicating greater osteoclastogenic potential of osteoblasts

Mouse Models of Human Disease
OMIM ID Ref(s)
Arthrogryposis, Distal, Type 9; DA9 121050 J:166786




Genotype
MGI:3641531
cx3
Allelic
Composition
Bmp7tm1Rob/Bmp7+
Fbn2tm1Rmz/Fbn2+
Genetic
Background
either: (involves: 129/Sv * 129S/SvEv) or (involves: 129/Sv * 129S/SvEv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp7tm1Rob mutation (2 available); any Bmp7 mutation (16 available)
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail




Genotype
MGI:3652415
cx4
Allelic
Composition
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (69 available)
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Fbn1tm3Rmz/Fbn1tm3Rmz Fbn2tm1Rmz/Fbn2tm1Rmz and Fbn1tm3Rmz/Fbn1+ Fbn2tm1Rmz/Fbn2tm1Rmz mice show poor organization of the aorta wall

mortality/aging

cardiovascular system
• impaired or delayed elastogenesis in the medial layer of the aorta




Genotype
MGI:3652417
cx5
Allelic
Composition
Fbn1tm3Rmz/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (69 available)
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Fbn1tm3Rmz/Fbn1tm3Rmz Fbn2tm1Rmz/Fbn2tm1Rmz and Fbn1tm3Rmz/Fbn1+ Fbn2tm1Rmz/Fbn2tm1Rmz mice show poor organization of the aorta wall

mortality/aging

cardiovascular system
• at E14.5 expression analysis indicates impaired or delayed matrix assembly in the medial layer of the aorta




Genotype
MGI:4839090
cx6
Allelic
Composition
Fbn1tm1.2Lysa/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1.2Lysa mutation (0 available); any Fbn1 mutation (69 available)
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die right after birth especially when the dam is homozygous for Fbn2tm1Rmz
• especially when the dam is homozygous for Fbn2tm1Rmz





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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory