Phenotypes associated with this allele

• Allele Symbol: Bmp4^tm4Blh
• Allele Name: targeted mutation 4, Brigid L Hogan
• Allele ID: MGI:3797048
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Bmp4^tm1Blh/Bmp4^tm4Blh	involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL	MGI:3805994
cn2	Bmp4^tm4Blh/Bmp4^tm4Blh Isl1^tm1(cre)Sev/Isl1^+	involves: 129 * 129S6/SvEvTac	MGI:5642272
cn3	Bmp4^tm1Blh/Bmp4^tm4Blh Foxg1^tm1(cre)Skm/Foxg1^+	involves: 129 * Black Swiss * C57BL/6 * SJL	MGI:3805980
cn4	Bmp4^tm1Blh/Bmp4^tm4Blh Tg(Pax2-cre)1Dje/0	involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL	MGI:3805991
cn5	Bmp4^tm4Blh/Bmp4^+ Bmp7^tm1.1Dgra/Bmp7^tm1.1Dgra Hoxa3^tm1(cre)Moon/Hoxa3^+	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:5642274

Genotype
MGI:3805994

ht1

• Allelic Composition: Bmp4^tm1Blh/Bmp4^tm4Blh
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL

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

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:136636 )

• percentage of mice display lateral canal truncation

Genotype
MGI:5642272

cn2

• Allelic Composition: Bmp4^tm4Blh/Bmp4^tm4Blh; Isl1^tm1(cre)Sev/Isl1⁺
• Genetic Background: involves: 129 * 129S6/SvEvTac

Hindlimb fusion of Bmp4^tm4Blh/Bmp4^tm4Blh Isl1^tm1(cre)Sev/Isl1⁺ mice

embryo

sirenomelia ( J:192045 )

• hindlimb fusion similar to sirenomelia

• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)

abnormal embryonic cloaca development ( J:192045 )

• marker analysis indicates abnormal anterior peri-cloacal mesenchyme formation resulting in hypoplastic anterior peri-cloacal mesenchyme

abnormal hindlimb bud morphology ( J:192045 )

• the location of hindlimb bud is closely apposed to one another

• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing

• however, the proximal-distal axis of the hindlimb bud is maintained

digestive/alimentary system

anal stenosis ( J:192045 )

limbs/digits/tail

abnormal fibula morphology ( J:192045 )

• defective fibula formation, with fibula aberrantly located medially or absent

abnormal limb development ( J:192045 )

• defective hindlimb initiation

sirenomelia ( J:192045 )

• hindlimb fusion similar to sirenomelia

• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)

abnormal hindlimb bud morphology ( J:192045 )

• the location of hindlimb bud is closely apposed to one another

• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing

• however, the proximal-distal axis of the hindlimb bud is maintained

renal/urinary system

abnormal renal/urinary system morphology ( J:192045 )

• dysgenesis of pelvic/urogenital organs

renal hypoplasia ( J:192045 )

absent urinary bladder ( J:192045 )

• bladder aplasia

reproductive system

abnormal external female genitalia morphology ( J:192045 )

• hypoplasia of external genitalia

external male genitalia hypoplasia ( J:192045 )

skeleton

abnormal fibula morphology ( J:192045 )

• defective fibula formation, with fibula aberrantly located medially or absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
physical disorder		DOID:0080015		J:192045

Genotype
MGI:3805980

cn3

• Allelic Composition: Bmp4^tm1Blh/Bmp4^tm4Blh; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129 * Black Swiss * C57BL/6 * SJL

hearing/vestibular/ear

abnormal scala media morphology ( J:136636 )

• cochlear ducts show variability in length

abnormal semicircular canal morphology ( J:136636 )

• less severely affected embryos display truncation of lateral canals

abnormal semicircular canal ampulla morphology ( J:136636 )

• not discernible in most severely affected embryos at E13.5

absent semicircular canals ( J:136636 )

• not discernible in most severely affected embryos at E13.5

abnormal utricle morphology ( J:136636 )

• malformed in most severely affected embryos at E13.5

abnormal vestibular saccule morphology ( J:136636 )

• malformed in most severely affected embryos at E13.5

abnormal endolymphatic duct morphology ( J:136636 )

• intact endolymphatic duct only is evident in dorsal region of inner ear

Genotype
MGI:3805991

cn4

• Allelic Composition: Bmp4^tm1Blh/Bmp4^tm4Blh; Tg(Pax2-cre)1Dje/0
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL

hearing/vestibular/ear

abnormal inner ear morphology ( J:136636 )

• tow thirds of embryos have inner ear defects; more mildly affected embryos show defects in the three ampullae and canals

abnormal semicircular canal morphology ( J:136636 )

• canal defects (in addition to lateral canal truncations) are observed in mildly affected embryos

abnormal utricle morphology ( J:136636 )

• malformed in more severely affected embryos

abnormal vestibular saccule morphology ( J:136636 )

• malformed in more severely affected embryos

Genotype
MGI:5642274

cn5

• Allelic Composition: Bmp4^tm4Blh/Bmp4⁺; Bmp7^tm1.1Dgra/Bmp7^tm1.1Dgra; Hoxa3^tm1(cre)Moon/Hoxa3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

digestive/alimentary system

anal stenosis ( J:192045 )

embryo

sirenomelia ( J:192045 )

• hindlimb fusion

limbs/digits/tail

sirenomelia ( J:192045 )

• hindlimb fusion

renal/urinary system

absent urinary bladder ( J:192045 )