Mouse Genome Informatics
hm1
    Bmp4tm3.1Blh/Bmp4tm3.1Blh
involves: 129S6/SvEvTac * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• abnormal eyes: sometimes appear slightly smaller than normal


Mouse Genome Informatics
ht2
    Bmp4tm1Blh/Bmp4tm3.1Blh
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• animals at E17.5 have no apparent defects other than eye dysmorphology, but no live births are noted

vision/eye


Mouse Genome Informatics
ht3
    Bmp4tm1Blh/Bmp4tm3.1Blh
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die between P1 and P7

cardiovascular system
N
• no outflow tract abnormalities are seen (J:86001)
• severe atrial septum primum abnormality resulting in an ostium primum atrial septation defect or partial atrial ventricular canal defect
• however, the atrioventicular and ventricular septa are similar to controls

vision/eye
• lack normal eyes


Mouse Genome Informatics
cn4
    Bmp4tm1Blh/Bmp4tm3.1Blh
Tg(Tnnt2-cre)5Blh/0

involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no neonates are found

cardiovascular system
• at E12.5 about a 20% decrease in proliferation is detected in the atrioventricular cushions but not in other areas of the heart
• present in 80% of embryos at E15.5 - E16.5
• single atrioventricular junction with a common valve

Mouse Models of Human Disease
OMIM IDRef(s)
Atrioventricular Septal Defect; AVSD 606215 J:86001


Mouse Genome Informatics
cn5
    Bmp4tm3.1Blh/Bmp4+
Tg(Sftpc-cre)1Blh/0

involves: 129S6/SvEvTac * C57BL/6 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
respiratory system
• at E16.5 and E18.5, 50% of mice exhibit abnormal lungs with large sacs
• at E16.5, cell proliferation lung epithelium and mesenchyme is decreased 50% compared to in wild-type mice while apoptosis is increased compared to in wild-type mice


Mouse Genome Informatics
cn6
    Bmp4tm3.1Blh/Bmp4tm3.1Blh
Tg(Tnnt2-cre)5Blh/0

involves: 129S6/SvEvTac * C57BL/6 * DBA/2 * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

cardiovascular system
N
• no outflow tract abnormalities are seen (J:86001)
• atrial septal defect similar to that in mice heterozygous for Bmp4tm1Blh and Bmp4tm3.1Blh

Mouse Models of Human Disease
OMIM IDRef(s)
Atrioventricular Septal Defect; AVSD 606215 J:86001