Phenotypes associated with this allele

• Allele Symbol: Bmp4^tm3.1Blh
• Allele Name: targeted mutation 3.1, Brigid L Hogan
• Allele ID: MGI:2181190
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bmp4^tm3.1Blh/Bmp4^tm3.1Blh	involves: 129S6/SvEvTac * Black Swiss	MGI:2183179
ht2	Bmp4^tm1Blh/Bmp4^tm3.1Blh	involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss	MGI:2183180
ht3	Bmp4^tm1Blh/Bmp4^tm3.1Blh	involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * ICR	MGI:3811284
cn4	Bmp4^tm3.1Blh/Bmp4^+ Tg(Sftpc-cre)1Blh/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3811315
cn5	Bmp4^tm3.1Blh/Bmp4^tm3.1Blh Tg(Tnnt2-cre)5Blh/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2 * ICR	MGI:2679083
cn6	Bmp4^tm1Blh/Bmp4^tm3.1Blh Tg(Tnnt2-cre)5Blh/0	involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR	MGI:2679084

Genotype
MGI:2183179

hm1

• Allelic Composition: Bmp4^tm3.1Blh/Bmp4^tm3.1Blh
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal eye morphology ( J:75136 )

• abnormal eyes: sometimes appear slightly smaller than normal

Genotype
MGI:2183180

ht2

• Allelic Composition: Bmp4^tm1Blh/Bmp4^tm3.1Blh
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss

mortality/aging

perinatal lethality, complete penetrance ( J:75136 )

• animals at E17.5 have no apparent defects other than eye dysmorphology, but no live births are noted

vision/eye

abnormal eye morphology ( J:75136 )

eyelids fail to open ( J:75136 )

Genotype
MGI:3811284

ht3

• Allelic Composition: Bmp4^tm1Blh/Bmp4^tm3.1Blh
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * ICR

mortality/aging

postnatal lethality, complete penetrance ( J:86001 )

• die between P1 and P7

cardiovascular system

cardiovascular system phenotype ( J:86001 )

N • no outflow tract abnormalities are seen

ostium primum atrial septal defect ( 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

partial atrioventricular septal defect ( J:86001 )

vision/eye

abnormal eye morphology ( J:86001 )

• lack normal eyes

Genotype
MGI:3811315

cn4

• Allelic Composition: Bmp4^tm3.1Blh/Bmp4⁺; Tg(Sftpc-cre)1Blh/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

respiratory system

abnormal lung morphology ( J:106392 )

• at E16.5 and E18.5, 50% of mice exhibit abnormal lungs with large sacs

abnormal respiratory system physiology ( J:106392 )

• 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

Genotype
MGI:2679083

cn5

• Allelic Composition: Bmp4^tm3.1Blh/Bmp4^tm3.1Blh; Tg(Tnnt2-cre)5Blh/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2 * ICR

mortality/aging

perinatal lethality ( J:86001 )

cardiovascular system

cardiovascular system phenotype ( J:86001 )

N • no outflow tract abnormalities are seen

atrial septal defect ( J:86001 )

• atrial septal defect similar to that in mice heterozygous for Bmp4^tm1Blh and Bmp4^tm3.1Blh

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:86001

Genotype
MGI:2679084

cn6

• Allelic Composition: Bmp4^tm1Blh/Bmp4^tm3.1Blh; Tg(Tnnt2-cre)5Blh/0
• Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR

mortality/aging

perinatal lethality, complete penetrance ( J:86001 )

• no neonates are found

cardiovascular system

abnormal atrioventricular cushion morphology ( J:86001 )

• at E12.5 about a 20% decrease in proliferation is detected in the atrioventricular cushions but not in other areas of the heart

double outlet right ventricle ( J:86001 )

• present in 80% of embryos at E15.5 - E16.5

common atrioventricular valve ( J:86001 )

• single atrioventricular junction with a common valve

complete atrioventricular septal defect ( J:86001 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:86001