Phenotypes associated with this allele

• Allele Symbol: Bmp4^tm1.1Jlch
• Allele Name: targeted mutation 1.1, Jan L Christian
• Allele ID: MGI:3714059
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bmp4^tm1.1Jlch/Bmp4^tm1.1Jlch	B6.129-Bmp4^tm1.1Jlch	MGI:3717203
ht2	Bmp4^tm1.1Jlch/Bmp4^+	B6.129-Bmp4^tm1.1Jlch	MGI:3717205
ht3	Bmp4^tm1.1Jlch/Bmp4^tm2Blh	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6	MGI:3717209

Genotype
MGI:3717203

hm1

• Allelic Composition: Bmp4^tm1.1Jlch/Bmp4^tm1.1Jlch
• Genetic Background: B6.129-Bmp4^tm1.1Jlch

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

reproductive system

decreased primordial germ cell number ( J:108516 )

• mice have reduced numbers of primordial germ cells

seminiferous tubule degeneration ( J:108516 )

♂ • 30-100% of seminiferous tubules fraction is degenerated due to apoptosis

small testis ( J:108516 )

♂ • 50% of mice have smaller testis

limbs/digits/tail

preaxial polydactyly ( J:108516 )

• 1 of 12 mice display right hindlimb preaxial polydactyly

abnormal forelimb morphology ( J:108516 )

• 60% of E15.5-P0 embryos and adults exhibit extra postaxial cartilaginous elements

skeleton

decreased rib number ( J:108516 )

• 1% of mice have small or missing 13th rib

short ribs ( J:108516 )

• 1% of mice have small or missing 13th rib

endocrine/exocrine glands

seminiferous tubule degeneration ( J:108516 )

♂ • 30-100% of seminiferous tubules fraction is degenerated due to apoptosis

small testis ( J:108516 )

♂ • 50% of mice have smaller testis

cellular

decreased primordial germ cell number ( J:108516 )

• mice have reduced numbers of primordial germ cells

Genotype
MGI:3717205

ht2

• Allelic Composition: Bmp4^tm1.1Jlch/Bmp4⁺
• Genetic Background: B6.129-Bmp4^tm1.1Jlch

reproductive system

decreased primordial germ cell number ( J:108516 )

• mice have reduced numbers of primordial germ cells

cellular

decreased primordial germ cell number ( J:108516 )

• mice have reduced numbers of primordial germ cells

Genotype
MGI:3717209

ht3

• Allelic Composition: Bmp4^tm1.1Jlch/Bmp4^tm2Blh
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:108516 )

• 37% of mice are recovered between E12 and P0 versus the expected 50%

postnatal lethality, incomplete penetrance ( J:108516 )

• 25% of the expected ratio of mice survive to weaning

embryo

abnormal allantois morphology ( J:108516 )

• at E8.5 to E9, 50% of mice exhibit an allantois that is not yet fused to the chorion and that contains a densely packed mesenchymal core

small allantois ( J:108516 )

• at E8.5 to E9

abnormal chorion morphology ( J:108516 )

• at E8.5 to E9, 50% of mice exhibit an allantois that is not yet fused to the chorion and that contains a densely packed mesenchymal core

skeleton

split xiphoid process ( J:108516 )

• in 3 of 3 mice at E13.5 to P0

limbs/digits/tail

polydactyly ( J:108516 )

• 1 in 12 mice display polydactyly at a similar frequency as in Bmp4^tm1.1Jlch homozygotes

abnormal forelimb morphology ( J:108516 )

• 8 of 12 mice exhibit forelimb postaxial duplications at a similar frequency as in Bmp4^tm1.1Jlch homozygotes

cardiovascular system

perimembraneous ventricular septal defect ( J:108516 )

• at E15 to E 17.5, 50% of mice exhibit a defect in closure of the membranous portion of the ventricular septum

vision/eye

microphthalmia ( J:108516 )

• at E12 to P0, 13 of 22 mice have missing or smaller eyes

anophthalmia ( J:108516 )

• at E12 to P0, 13 of 22 mice have missing or smaller eyes

growth/size/body

omphalocele ( J:108516 )

• in 9 of 18 mice at E13.5 to P0

failure of ventral body wall closure ( J:108516 )

• at E13.5 to P0, mice exhibit a variety of ventral body wall closure defects ranging from complete failure of ventral body wall fusion leading to the externalization of the viscera (in 5 of 18 mice), to umbilical hernia (in 9 of 18 mice) to the failure of sternal fusion leading to s split xiphoid process (in 3 of 3 mice)