vision/eye
|
• abnormal eyes: sometimes appear slightly smaller than normal
|
|
hm1
|
Bmp4tm3.1Blh/Bmp4tm3.1Blh
involves: 129S6/SvEvTac * Black Swiss |
|
|||||||||||||||||
|
• abnormal eyes: sometimes appear slightly smaller than normal
|
|
ht2
|
Bmp4tm1Blh/Bmp4tm3.1Blh
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss |
|
|||||||||||||||||
|
• animals at E17.5 have no apparent defects other than eye dysmorphology, but no live births are noted
|
|
ht3
|
Bmp4tm1Blh/Bmp4tm3.1Blh
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * ICR |
|
|||||||||||||||||
|
• die between P1 and P7
|
| 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
|
|
• lack normal eyes
|
|
cn4
|
Bmp4tm1Blh/Bmp4tm3.1Blh Tg(Tnnt2-cre)5Blh/0 involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR |
|
|||||||||||||||||
|
• no neonates are found
|
|
• 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 ID | Ref(s) | |
| Atrioventricular Septal Defect; AVSD | 606215 | J:86001 | |
|
cn5
|
Bmp4tm3.1Blh/Bmp4+ Tg(Sftpc-cre)1Blh/0 involves: 129S6/SvEvTac * C57BL/6 * DBA/2 |
|
|||||||||||||||||
|
• 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
|
|
cn6
|
Bmp4tm3.1Blh/Bmp4tm3.1Blh Tg(Tnnt2-cre)5Blh/0 involves: 129S6/SvEvTac * C57BL/6 * DBA/2 * ICR |
|
|||||||||||||||||
| 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 ID | Ref(s) | |
| Atrioventricular Septal Defect; AVSD | 606215 | J:86001 | |