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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 (1 available); any Fbn2 mutation (142 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Bilateral syndactyly in Fbn2tm1Rmz/Fbn2tm1Rmz mice

limbs/digits/tail
abnormal interdigital cell death ( J:70592 )
• at E13.5 decreased apoptosis is seen in the interdigital rays
abnormal autopod morphology ( J:70592 )
• malformed at E13.5 before the appearance of interdigital cell death
syndactyly ( J:70592 )
• bilateral syndactyly involving the central 2 or 3 digits of both the hind and fore paws and always involving the first phalange

skeleton
abnormal joint morphology ( J:70592 )
• 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
respiratory system phenotype ( J:70592 )
N
• branching morphogenesis of the lungs is normal

cellular
abnormal interdigital cell death ( J:70592 )
• at E13.5 decreased apoptosis is seen in the interdigital rays

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
distal arthrogryposis DOID:0050646 OMIM:PS108120
 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 (1 available); any Fbn2 mutation (142 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Experimental osteolysis occurs more extensively in Fbn1tm3Rmz/Fbn1tm3Rmz mice

skeleton
decreased bone mass ( J:166786 )
• mutants exhibit 27% less bone mass by 3 months of age
abnormal skeleton development ( J:166786 )
• mutants exhibit a 55% reduction in bone formation rate by 3 months of age
abnormal bone remodeling ( J:166786 )
• 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
 DO ID OMIM ID(s) Ref(s)
distal arthrogryposis DOID:0050646 OMIM:PS108120
 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 (37 available)
Fbn2tm1Rmz mutation (1 available); any Fbn2 mutation (142 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 (1 available); any Fbn1 mutation (171 available)
Fbn2tm1Rmz mutation (1 available); any Fbn2 mutation (142 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
abnormal aorta tunica media morphology ( J:110586 )
• 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 (1 available); any Fbn1 mutation (171 available)
Fbn2tm1Rmz mutation (1 available); any Fbn2 mutation (142 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
abnormal aorta tunica media morphology ( J:110586 )
• 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 (171 available)
Fbn2tm1Rmz mutation (1 available); any Fbn2 mutation (142 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:165897 )
• most mice die right after birth especially when the dam is homozygous for Fbn2tm1Rmz
prenatal lethality, incomplete penetrance ( J:165897 )
• especially when the dam is homozygous for Fbn2tm1Rmz




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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory