Mouse Genome Informatics
hm1
    Fbn2tm1Rmz/Fbn2tm1Rmz
either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:70592)

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

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


Mouse Genome Informatics
hm2
    Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Arthrogryposis, Distal, Type 9; DA9 121050 J:166786


Mouse Genome Informatics
cx3
    Bmp7tm1Rob/Bmp7+
Fbn2tm1Rmz/Fbn2+

either: (involves: 129/Sv * 129S/SvEv) or (involves: 129/Sv * 129S/SvEv * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
limbs/digits/tail


Mouse Genome Informatics
cx4
    Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn2tm1Rmz/Fbn2tm1Rmz

involves: 129
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cx5
    Fbn1tm3Rmz/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz

involves: 129
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cx6
    Fbn1tm1.2Lysa/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz

involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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