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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bmp4tm1Blh
targeted mutation 1, Brigid L Hogan
MGI:1857137
Summary 30 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bmp4tm1Blh/Bmp4tm1Blh 129S2/SvPas-Bmp4tm1Blh MGI:2183175
hm2
Bmp4tm1Blh/Bmp4tm1Blh B6.129S2-Bmp4tm1Blh/J MGI:2183174
hm3
Bmp4tm1Blh/Bmp4tm1Blh involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss MGI:2676352
hm4
Bmp4tm1Blh/Bmp4tm1Blh involves: 129S2/SvPas * Black Swiss MGI:2169483
hm5
Bmp4tm1Blh/Bmp4tm1Blh involves: 129S2/SvPas * C57BL/6 MGI:2183173
hm6
Bmp4tm1Blh/Bmp4tm1Blh involves: 129S2/SvPas * C57BL/6 * CBA MGI:2664348
hm7
Bmp4tm1Blh/Bmp4tm1Blh involves: 129S2/SvPas * ICR MGI:2183176
ht8
Bmp4tm1Blh/Bmp4+ B6.129S2-Bmp4tm1Blh/J MGI:3711773
ht9
Bmp4tm1Blh/Bmp4+ involves: 129S2/SvPas * 129S6/SvEvTac MGI:3774171
ht10
Bmp4tm1Blh/Bmp4+ involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss MGI:3805986
ht11
Bmp4tm1Blh/Bmp4+ involves: 129S2/SvPas * BALB/cJ MGI:3774172
ht12
Bmp4tm1Blh/Bmp4+ involves: 129S2/SvPas * C3Hf/HeA * C57BL/LiA MGI:3774169
ht13
Bmp4tm1Blh/Bmp4+ involves: 129S2/SvPas * C57BL/6 MGI:4442895
ht14
Bmp4tm1Blh/Bmp4+ involves: 129S2/SvPas * C57BL/6 * CBA MGI:2664349
ht15
Bmp4tm1Blh/Bmp4+ involves: 129S2/SvPas * CAST/Ei MGI:3774170
ht16
Bmp4tm1Blh/Bmp4tm3.1Blh involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss MGI:2183180
ht17
Bmp4tm1Blh/Bmp4tm4Blh involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL MGI:3805994
ht18
Bmp4tm1Blh/Bmp4tm3.1Blh involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * ICR MGI:3811284
cn19
Bmp4tm1Blh/Bmp4tm4Blh
Foxg1tm1(cre)Skm/Foxg1+
involves: 129 * Black Swiss * C57BL/6 * SJL MGI:3805980
cn20
Bmp4tm1Blh/Bmp4tm3.1Blh
Tg(Tnnt2-cre)5Blh/0
involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR MGI:2679084
cn21
Bmp4tm1Blh/Bmp4tm4Blh
Tg(Pax2-cre)1Dje/0
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL MGI:3805991
cx22
Bmp4tm1Blh/Bmp4+
Bmp8btm1Blh/Bmp8b+
involves: 129/Sv * 129S2/SvPas * Black Swiss MGI:3834139
cx23
Bmp4tm1Blh/Bmp4+
Gpc3Gt(Ex136)Byg/Y
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:3849594
cx24
Bmp4tm1Blh/Bmp4+
Ctdnep1tm1Ryn/Ctdnep1tm1Ryn
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * CBA MGI:5510851
cx25
Bmp4tm1Blh/Bmp4+
Tg(Prdm14-Venus)1Sait/0
involves: 129S2/SvPas MGI:3805985
cx26
Alx4tm1Rwi/Alx4+
Bmp4tm1Blh/Bmp4+
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 MGI:2166749
cx27
Bmp4tm1Blh/Bmp4+
Bmp7tm1Kry/Bmp7+
involves: 129S2/SvPas * 129S7/SvEvBrd MGI:3047090
cx28
Bmp4tm1Blh/Bmp4+
Gpc3tm1Snd/Y
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3849595
cx29
Bmp4tm1Blh/Bmp4+
Twsg1tm1Emdr/Twsg1tm1Emdr
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * SJL MGI:3044666
cx30
Bmp4tm1Blh/Bmp4+
Gli3Xt-J/Gli3+
involves: 129S2/SvPas * C3H/HeJ * C57BL/6J * C57BL/6NHsd MGI:3811812


Genotype
MGI:2183175
hm1
Allelic
Composition
Bmp4tm1Blh/Bmp4tm1Blh
Genetic
Background
129S2/SvPas-Bmp4tm1Blh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• none survive beyond the egg cylinder stage (J:28717)
• none survive beyond the egg cylinder stage (J:28717)

embryogenesis
• absence of organized primitive streak (J:28717)
• absence of organized primitive streak (J:28717)
• hypoplastic extraembryonic mesoderm: small amount can be distinguished (J:28717)
• hypoplastic extraembryonic mesoderm: small amount can be distinguished (J:28717)




Genotype
MGI:2183174
hm2
Allelic
Composition
Bmp4tm1Blh/Bmp4tm1Blh
Genetic
Background
B6.129S2-Bmp4tm1Blh/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• none survive beyond the egg cylinder stage (J:28717)
• none survive beyond the egg cylinder stage (J:28717)

embryogenesis
• absence of organized primitive streak (J:28717)
• absence of organized primitive streak (J:28717)
• hypoplastic extraembryonic mesoderm: small amount can be distinguished (J:28717)
• hypoplastic extraembryonic mesoderm: small amount can be distinguished (J:28717)
• there is a relative paucity of blood islands containing red blood cells in the visceral yolk sac (J:28717)
• there is a relative paucity of blood islands containing red blood cells in the visceral yolk sac (J:28717)

hematopoietic system
• few red blood cells are found in the heart, dorsal aorta, and vessels of an E8.5 embryo (J:28717)
• few red blood cells are found in the heart, dorsal aorta, and vessels of an E8.5 embryo (J:28717)




Genotype
MGI:2676352
hm3
Allelic
Composition
Bmp4tm1Blh/Bmp4tm1Blh
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• an abnormal posterior bulge is present from the headfold to 6 somite stage (J:79391)
• an abnormal posterior bulge is present from the headfold to 6 somite stage (J:79391)
• node is either flat or slightly convex with an irregular periphery in embryos from the headfold to 6 somite stage unlike in controls where it is concave (J:79391)
• one embryo had large endoderm-like cells within the node (J:79391)
• node is either flat or slightly convex with an irregular periphery in embryos from the headfold to 6 somite stage unlike in controls where it is concave (J:79391)
• one embryo had large endoderm-like cells within the node (J:79391)
• a mass of mesodermal cells extending to the apical surface of the ectoderm fills much of the posterior amniotic cavity (J:79391)
• a mass of mesodermal cells extending to the apical surface of the ectoderm fills much of the posterior amniotic cavity (J:79391)
• at the 2 to 8 somite stage, over 75% of embryos show patch or reduced Nodal expression and lack expression in the left lateral plate mesoderm (J:79391)
• in about 65% of embryos at the 3 to 4 somite stage Lefty2 expression is absent from the lateral plate mesoderm (J:79391)
• at the 2 to 8 somite stage, over 75% of embryos show patch or reduced Nodal expression and lack expression in the left lateral plate mesoderm (J:79391)
• in about 65% of embryos at the 3 to 4 somite stage Lefty2 expression is absent from the lateral plate mesoderm (J:79391)
• much of the posterior amniotic cavity is filled up by a mass of mesodermal cells that extends to the apical surface of the ectoderm (J:79391)
• much of the posterior amniotic cavity is filled up by a mass of mesodermal cells that extends to the apical surface of the ectoderm (J:79391)

cardiovascular system
• at the 9 to 10 somite stage in about 50% of embryos the heart tube lies centrally along the midline and shows no signs of looping (J:79391)
• at the 9 to 10 somite stage in about 50% of embryos the heart tube lies centrally along the midline and shows no signs of looping (J:79391)




Genotype
MGI:2169483
hm4
Allelic
Composition
Bmp4tm1Blh/Bmp4tm1Blh
Genetic
Background
involves: 129S2/SvPas * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at E10.5 (J:51570)
• at E10.5 (J:51570)

growth/size/body
• at E10.5, homozygotes have 20-27 somites, while littermates have greater than 35 (J:51570)
• at E10.5, homozygotes have 20-27 somites, while littermates have greater than 35 (J:51570)

vision/eye
• failure of lens placode induction (J:51570)
• failure of lens placode induction (J:51570)

embryogenesis
• all embryos lacked an allantois (J:53311)
• all embryos lacked an allantois (J:53311)
• at E10.5, homozygotes have 20-27 somites, while littermates have greater than 35 (J:51570)
• at E10.5, homozygotes have 20-27 somites, while littermates have greater than 35 (J:51570)

reproductive system

endocrine/exocrine glands
• no sign of Rathke's pouch formation (either ectodermal thickening or invagination) is noted at E9.5-E9.75 (J:50517)
• no sign of Rathke's pouch formation (either ectodermal thickening or invagination) is noted at E9.5-E9.75 (J:50517)

nervous system
• no sign of Rathke's pouch formation (either ectodermal thickening or invagination) is noted at E9.5-E9.75 (J:50517)
• no sign of Rathke's pouch formation (either ectodermal thickening or invagination) is noted at E9.5-E9.75 (J:50517)




Genotype
MGI:2183173
hm5
Allelic
Composition
Bmp4tm1Blh/Bmp4tm1Blh
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals die between E7.5 and E10.5; most are arrested at the egg cylinder stage (J:28717)
• animals die between E7.5 and E10.5; most are arrested at the egg cylinder stage (J:28717)

embryogenesis
• posterior patterning abnormalities (J:28717)
• posterior patterning abnormalities (J:28717)
• absent extraembryonic mesoderm (J:28717)
• absent extraembryonic mesoderm (J:28717)
• visceral yolk sac often have a "blebby" appearance attributable to the paucity of extraembryonic mesoderm and blood islands underlying the endoderm layer (J:28717)
• visceral yolk sac often have a "blebby" appearance attributable to the paucity of extraembryonic mesoderm and blood islands underlying the endoderm layer (J:28717)
• embryos that develop past the egg cylinder stage have a paucity of blood islands (J:28717)
• embryos that develop past the egg cylinder stage have a paucity of blood islands (J:28717)
• embryos are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)
• embryos are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)

growth/size/body
• embryos are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)
• embryos are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)




Genotype
MGI:2664348
hm6
Allelic
Composition
Bmp4tm1Blh/Bmp4tm1Blh
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryogenesis
• all embryos lacked an allantois (J:53311)
• all embryos lacked an allantois (J:53311)

reproductive system
• absent primordial germ cells (J:53311)
• absent primordial germ cells (J:53311)

growth/size/body




Genotype
MGI:2183176
hm7
Allelic
Composition
Bmp4tm1Blh/Bmp4tm1Blh
Genetic
Background
involves: 129S2/SvPas * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos die between E9.5-E11.5 (J:28717)
• embryos die between E9.5-E11.5 (J:28717)

growth/size/body
• are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)
• are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)

embryogenesis
• are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)
• are grossly retarded but have undergone turning, have a beating heart and forelimb buds (J:28717)




Genotype
MGI:3711773
ht8
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
B6.129S2-Bmp4tm1Blh/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Anterior eye segment abnormalities in Bmp4tm1Blh/Bmp4+ mice

mortality/aging
• less than half as many heterozygotes are born as expected (J:42445)
• less than half as many heterozygotes are born as expected (J:42445)

vision/eye
• Background Sensitivity: mutants on a C57BL/6J background exhibit variable anterior and posterior segment abnormalities that are reduced on a mixed C3Hf/HeA and C57BL/LiA background and are rarely seen in mutants on CAST/Ei, 129S6/SvEvTac, or BALB/cJ background (J:82877)
• Background Sensitivity: mutants on a C57BL/6J background exhibit variable anterior and posterior segment abnormalities that are reduced on a mixed C3Hf/HeA and C57BL/LiA background and are rarely seen in mutants on CAST/Ei, 129S6/SvEvTac, or BALB/cJ background (J:82877)
• variable anterior segment abnormalities in mutants 3-5 months of age (J:82877)
• variable anterior segment abnormalities in mutants 3-5 months of age (J:82877)
• abnormal in most eyes (J:82877)
• abnormal in most eyes (J:82877)
• small or absent (J:82877)
• small or absent (J:82877)
• small or absent (J:82877)
• small or absent (J:82877)
• displaced Schwalbe's line (J:82877)
• displaced Schwalbe's line (J:82877)
• hypoplastic or absent trabecular meshwork that appears compressed and stalled in development (J:82877)
• hypoplastic or absent trabecular meshwork that appears compressed and stalled in development (J:82877)
• hypoplastic or absent trabecular meshwork that appears compressed and stalled in development (J:82877)
• hypoplastic or absent trabecular meshwork that appears compressed and stalled in development (J:82877)
• pupils are often eccentrically located (J:82877)
• pupils are often eccentrically located (J:82877)
• iris is generally normal, however in some eyes, the iris is hypoplastic and malformed; occasionally the malformation is extensive involving both iris and ciliary body (J:82877)
• iris is generally normal, however in some eyes, the iris is hypoplastic and malformed; occasionally the malformation is extensive involving both iris and ciliary body (J:82877)
• extracellular matrix (ECM) abnormalities are seen in the peripheral cornea, showing irregularly arranged collagen bundles (J:82877)
• extracellular matrix (ECM) abnormalities are seen in the peripheral cornea, showing irregularly arranged collagen bundles (J:82877)
• abnormal iridocorneal attachments (anterior synechiae) of variable extent (J:82877)
• abnormal iridocorneal attachments (anterior synechiae) of variable extent (J:82877)
• peripheral cornea is often thinner with neovascularization (J:82877)
• peripheral cornea is often thinner with neovascularization (J:82877)
• some eyes exhibit scleralization (opacity) of the the peripheral cornea or diffuse corneal haze (J:82877)
• some eyes exhibit scleralization (opacity) of the the peripheral cornea or diffuse corneal haze (J:82877)
• anterior subcapsular and cortical contaracts occur in most mutants (J:82877)
• anterior subcapsular and cortical contaracts occur in most mutants (J:82877)
• anterior subcapsular and cortical contaracts occur in most mutants (J:82877)
• anterior subcapsular and cortical contaracts occur in most mutants (J:82877)
• frequency increased 3 fold (J:42445)
• frequency increased 3 fold (J:42445)
• variable posterior eye segment abnormalities (J:82877)
• variable posterior eye segment abnormalities (J:82877)
• abnormalities of the optic nerve head are frequently observed (J:82877)
• optic nerve abnormalities range from normal to absent, and are most often severely abnormal consisting of loose connective tissue, with absence of neural tissue (J:82877)
• abnormalities of the optic nerve head are frequently observed (J:82877)
• optic nerve abnormalities range from normal to absent, and are most often severely abnormal consisting of loose connective tissue, with absence of neural tissue (J:82877)
• the optic nerve is sometimes absent (J:82877)
• the optic nerve is sometimes absent (J:82877)
• the main retinal vessels branch close to the optic nerve and are irregularly arranged compared to wild-type (J:82877)
• the main retinal vessels branch close to the optic nerve and are irregularly arranged compared to wild-type (J:82877)
• retinal ganglion cell layer on average contains about 50% the normal number of cells (J:82877)
• retinal ganglion cell layer on average contains about 50% the normal number of cells (J:82877)
• photoreceptor layer typically appears normal, however there are foci of retinal dysplasia, characterized by rosette formation (J:82877)
• photoreceptor layer typically appears normal, however there are foci of retinal dysplasia, characterized by rosette formation (J:82877)
• about 25% of heterozygotes exhibit retinal detachment as early as P30, with increased incidence as mice age (J:82877)
• about 25% of heterozygotes exhibit retinal detachment as early as P30, with increased incidence as mice age (J:82877)
• dense network of small tortuous vessels throughout the vitreous that leak fluorescein, indicating compromised integrity of the vessels (J:82877)
• dense network of small tortuous vessels throughout the vitreous that leak fluorescein, indicating compromised integrity of the vessels (J:82877)
• abnormal persistence of the anterior hyaloid vessels (J:82877)
• posterior hyaloid vessels persist throughout the 17 month period studied and increase in number and size beyond that normally seen at birth (J:82877)
• abnormal persistence of the anterior hyaloid vessels (J:82877)
• posterior hyaloid vessels persist throughout the 17 month period studied and increase in number and size beyond that normally seen at birth (J:82877)
• irregular white patches in the vitreous and dense vitreous haze in the majority of eyes (J:82877)
• irregular white patches in the vitreous and dense vitreous haze in the majority of eyes (J:82877)
• frequency increased 3 fold (J:42445)
• frequency increased 3 fold (J:42445)
• in some eyes, both a- and b-wave amplitude are reduced, due in part to poor pupillary dilation, with preferential loss of b-wave relative to a-wave (J:82877)
• in some eyes, both a- and b-wave amplitude are reduced, due in part to poor pupillary dilation, with preferential loss of b-wave relative to a-wave (J:82877)
• mutants with severe drainage structure abnormalities over 80% or more of their angle's extent have elevated intraocular pressure (J:82877)
• mutants with severe drainage structure abnormalities over 80% or more of their angle's extent have elevated intraocular pressure (J:82877)

hearing/vestibular/ear
• circling heterozygotes display low gain ratios with yaw axis rotation in the vestibulo-collic reflex, indicating poorer head stability relative to wild-type mice; poor response is consistent with horizontal semicircular canal dysfunction (J:118380)
• in the pitch axis, circling heterozygotes display as good or better head stability than wild-type mice, with gain ratios being greater or equal to 1 (J:118380)
• in contrast, non-circling heterozygotes have gain ratios of greater or equal to 1 in both the yaw and pitch axes, indicating normal VCR function (J:118380)
• circling heterozygotes display low gain ratios with yaw axis rotation in the vestibulo-collic reflex, indicating poorer head stability relative to wild-type mice; poor response is consistent with horizontal semicircular canal dysfunction (J:118380)
• in the pitch axis, circling heterozygotes display as good or better head stability than wild-type mice, with gain ratios being greater or equal to 1 (J:118380)
• in contrast, non-circling heterozygotes have gain ratios of greater or equal to 1 in both the yaw and pitch axes, indicating normal VCR function (J:118380)
• 2 of 4 circler and 2 of 4 non-circler heterozygotes show reduced neuronal processes in the organ of Corti (J:118380)
• in contrast, the saccule, utricle and ampullae of heterozygotes show normal numbers of neuronal processes (J:118380)
• 2 of 4 circler and 2 of 4 non-circler heterozygotes show reduced neuronal processes in the organ of Corti (J:118380)
• in contrast, the saccule, utricle and ampullae of heterozygotes show normal numbers of neuronal processes (J:118380)
• 4 of 6 circling heterozygotes display a significantly reduced number of stereocilia in their ampullae relative to wild-type; the other two circlers show a patchy decrease in the number of stereocilia (J:118380)
• in contrast, circling heterozygotes show normal stereocilia in the organ of Corti, saccule and utricle (J:118380)
• non-circling heterozygotes have normal-appearing stereocilia in both auditory and vestibular tissues (J:118380)
• 4 of 6 circling heterozygotes display a significantly reduced number of stereocilia in their ampullae relative to wild-type; the other two circlers show a patchy decrease in the number of stereocilia (J:118380)
• in contrast, circling heterozygotes show normal stereocilia in the organ of Corti, saccule and utricle (J:118380)
• non-circling heterozygotes have normal-appearing stereocilia in both auditory and vestibular tissues (J:118380)
• most circling heterozygotes exhibit elevated ABR thresholds across all test frequencies (7 out of 11 mice at 6 kHz and 12 kHz; 8 out of 11 mice at 24 kHz) (J:118380)
• non-circlers display elevated ABR thresholds similar to those of circlers (J:118380)
• most circling heterozygotes exhibit elevated ABR thresholds across all test frequencies (7 out of 11 mice at 6 kHz and 12 kHz; 8 out of 11 mice at 24 kHz) (J:118380)
• non-circlers display elevated ABR thresholds similar to those of circlers (J:118380)
• both circling and non-circling heterozygotes display a partial hearing loss, as assessed by ABR testing (J:118380)
• both circling and non-circling heterozygotes display a partial hearing loss, as assessed by ABR testing (J:118380)

nervous system
• 4 of 6 circling heterozygotes display a significantly reduced number of stereocilia in their ampullae relative to wild-type; the other two circlers show a patchy decrease in the number of stereocilia (J:118380)
• in contrast, circling heterozygotes show normal stereocilia in the organ of Corti, saccule and utricle (J:118380)
• non-circling heterozygotes have normal-appearing stereocilia in both auditory and vestibular tissues (J:118380)
• non-circling heterozygotes have normal-appearing stereocilia in both auditory and vestibular tissues (J:118380)
• 4 of 6 circling heterozygotes display a significantly reduced number of stereocilia in their ampullae relative to wild-type; the other two circlers show a patchy decrease in the number of stereocilia (J:118380)
• in contrast, circling heterozygotes show normal stereocilia in the organ of Corti, saccule and utricle (J:118380)
• neuronal processes innervating the cochlea of both circling and non-circling heterozygotes mice are reduced in number (J:118380)
• neuronal processes innervating the cochlea of both circling and non-circling heterozygotes mice are reduced in number (J:118380)
• abnormalities of the optic nerve head are frequently observed (J:82877)
• optic nerve abnormalities range from normal to absent, and are most often severely abnormal consisting of loose connective tissue, with absence of neural tissue (J:82877)
• abnormalities of the optic nerve head are frequently observed (J:82877)
• optic nerve abnormalities range from normal to absent, and are most often severely abnormal consisting of loose connective tissue, with absence of neural tissue (J:82877)
• the optic nerve is sometimes absent (J:82877)
• the optic nerve is sometimes absent (J:82877)

behavior/neurological
• circling heterozygotes display low gain ratios with yaw axis rotation in the vestibulo-collic reflex, indicating poorer head stability relative to wild-type mice; poor response is consistent with horizontal semicircular canal dysfunction (J:118380)
• in the pitch axis, circling heterozygotes display as good or better head stability than wild-type mice, with gain ratios being greater or equal to 1 (J:118380)
• in contrast, non-circling heterozygotes have gain ratios of greater or equal to 1 in both the yaw and pitch axes, indicating normal VCR function (J:118380)
• circling heterozygotes display low gain ratios with yaw axis rotation in the vestibulo-collic reflex, indicating poorer head stability relative to wild-type mice; poor response is consistent with horizontal semicircular canal dysfunction (J:118380)
• in the pitch axis, circling heterozygotes display as good or better head stability than wild-type mice, with gain ratios being greater or equal to 1 (J:118380)
• in contrast, non-circling heterozygotes have gain ratios of greater or equal to 1 in both the yaw and pitch axes, indicating normal VCR function (J:118380)
• by 2 weeks of age, 10% of heterozygous pups display circling behavior (J:118380)
• 1 of 2 circlers spent 50% of the time circling in a clockwise direction, 17% in a counterclockwise direction and 33% not circling (J:118380)
• the second circler spent 65% of the time circling in a clockwise direction, 1% in a counterclockwise direction and 34% not circling (J:118380)
• by 2 weeks of age, 10% of heterozygous pups display circling behavior (J:118380)
• 1 of 2 circlers spent 50% of the time circling in a clockwise direction, 17% in a counterclockwise direction and 33% not circling (J:118380)
• the second circler spent 65% of the time circling in a clockwise direction, 1% in a counterclockwise direction and 34% not circling (J:118380)

reproductive system
• sometimes cystic (J:42445)
• sometimes with abnormal lobulation (J:42445)
• sometimes cystic (J:42445)
• sometimes with abnormal lobulation (J:42445)
• sometimes cystic (J:42445)
• sometimes cystic (J:42445)
• female heterozygotes are poorer breeders relative to wild-type females (J:118380)
• female heterozygotes are poorer breeders relative to wild-type females (J:118380)
• average litter from mating a wild-type C57BL/6 mouse with a C57BL/6 heterozygote yields only 1 heterozygous pup (J:118380)
• average litter from mating a wild-type C57BL/6 mouse with a C57BL/6 heterozygote yields only 1 heterozygous pup (J:118380)

cardiovascular system
• the main retinal vessels branch close to the optic nerve and are irregularly arranged compared to wild-type (J:82877)
• the main retinal vessels branch close to the optic nerve and are irregularly arranged compared to wild-type (J:82877)

renal/urinary system
• marked hydronephrosis in 12% of heterozygotes but ureter is undilated (J:42445)
• marked hydronephrosis in 12% of heterozygotes but ureter is undilated (J:42445)
• cortex of remaining kidney is atrophic (J:42445)
• cortex of remaining kidney is atrophic (J:42445)
• single cystic kidney in about 12% of heterozygotes (J:42445)
• multiple cysts involving both tubules and glomeruli (J:42445)
• single cystic kidney in about 12% of heterozygotes (J:42445)
• multiple cysts involving both tubules and glomeruli (J:42445)
• single cystic kidney in about 12% of heterozygotes (J:42445)
• single cystic kidney in about 12% of heterozygotes (J:42445)

craniofacial
• in about 12% of individuals (J:42445)
• in about 12% of individuals (J:42445)
• in about 12% of individuals (J:42445)
• in about 12% of individuals (J:42445)

limbs/digits/tail
• 12% with unilateral anterior polydactyly involving the right hind limb only (J:42445)
• 12% with unilateral anterior polydactyly involving the right hind limb only (J:42445)

skeleton
• in about 12% of individuals (J:42445)
• in about 12% of individuals (J:42445)
• in about 12% of individuals (J:42445)
• in about 12% of individuals (J:42445)

endocrine/exocrine glands
• sometimes cystic (J:42445)
• sometimes with abnormal lobulation (J:42445)
• sometimes cystic (J:42445)
• sometimes with abnormal lobulation (J:42445)
• sometimes cystic (J:42445)
• sometimes cystic (J:42445)

Mouse Models of Human Disease
OMIM ID Ref(s)
Axenfeld-Rieger Syndrome, Type 3; RIEG3 602482 J:82877




Genotype
MGI:3774171
ht9
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: incidence of eye abnormalities is much lower on the 129S6/SvEvTac background than on a C57BL/6J background, with only 1 of 12 mice showing persistent vitreous vessels and abnormal pupil/iris (J:82877)
• Background Sensitivity: incidence of eye abnormalities is much lower on the 129S6/SvEvTac background than on a C57BL/6J background, with only 1 of 12 mice showing persistent vitreous vessels and abnormal pupil/iris (J:82877)
• 1 of 12 mice shows persistent vitreous vessels (J:82877)
• 1 of 12 mice shows persistent vitreous vessels (J:82877)
• 1 of 12 mice shows abnormal pupil/iris (J:82877)
• 1 of 12 mice shows abnormal pupil/iris (J:82877)

reproductive system
• fewer primordial germ cells due to a reduced founder population rather than impaired expansion (J:53311)
• estimated 55% reduction in PGC founder population of mice on the 129S/SvEv, Black Swiss mixed background (J:53311)
• fewer primordial germ cells due to a reduced founder population rather than impaired expansion (J:53311)
• estimated 55% reduction in PGC founder population of mice on the 129S/SvEv, Black Swiss mixed background (J:53311)




Genotype
MGI:3805986
ht10
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• Background Sensitivity: mice do not display circling behavior on Black Swiss background but a small percentage do on a C57BL/6 background (J:136636)
• Background Sensitivity: mice do not display circling behavior on Black Swiss background but a small percentage do on a C57BL/6 background (J:136636)




Genotype
MGI:3774172
ht11
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * BALB/cJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: only 1 out of 15 mice on a BALB/cJ background exhibit eye abnormalities (persistent vitreous vessels) compared to multiple and variable eye abnormalities seen on a C57BL/6J background (J:82877)
• Background Sensitivity: only 1 out of 15 mice on a BALB/cJ background exhibit eye abnormalities (persistent vitreous vessels) compared to multiple and variable eye abnormalities seen on a C57BL/6J background (J:82877)




Genotype
MGI:3774169
ht12
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * C3Hf/HeA * C57BL/LiA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: on a C3Hf/HeA and C57BL/LiA background, fewer mutants exhibit anterior segment abnormalities, with only half showing defects compared to 2/3 of mutants on a C57BL/6J background (J:82877)
• Background Sensitivity: on a C3Hf/HeA and C57BL/LiA background, fewer mutants exhibit anterior segment abnormalities, with only half showing defects compared to 2/3 of mutants on a C57BL/6J background (J:82877)
• 5 of 13 mutants exhibit enlarged pupils (J:82877)
• 5 of 13 mutants exhibit enlarged pupils (J:82877)




Genotype
MGI:4442895
ht13
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• diabetic mutants (generated by treatment with streptozotocin, STZ) exhibit decreased body weight compared to untreated controls (J:173500)
• diabetic mutants (generated by treatment with streptozotocin, STZ) exhibit decreased body weight compared to untreated controls (J:173500)

hearing/vestibular/ear
N
• mice exhibit normal hearing (J:159227)
• mice exhibit normal hearing (J:159227)
• at E12, mice exhibit small or absent lateral plate epithelium compared with wild-type mice with the central part least affected of all the parts (J:159227)
• at E12, mice exhibit small or absent lateral plate epithelium compared with wild-type mice with the central part least affected of all the parts (J:159227)
• higher in the left ear than the right ear (J:159227)
• Background Sensitivity: 70% of females and 62% of males on a mixed 129S2/SvPas and C57BL/6 background exhibit abnormal semicircular canal compared to only 9% of mice on a mixed 129S2/SvPas, C57BL/6, and CBA background (J:159227)
• higher in the left ear than the right ear (J:159227)
• Background Sensitivity: 70% of females and 62% of males on a mixed 129S2/SvPas and C57BL/6 background exhibit abnormal semicircular canal compared to only 9% of mice on a mixed 129S2/SvPas, C57BL/6, and CBA background (J:159227)
• the lateral duct and cartilage lining are absent in some mice (J:159227)
• the lateral duct and cartilage lining are absent in some mice (J:159227)
• partially truncated, constricted, or absent in some mice (J:159227)
• partially truncated, constricted, or absent in some mice (J:159227)

behavior/neurological
• in 37% of females and 24% of males strongly associated with bilateral defects in the lateral semicircular canal (J:159227)
• in 37% of females and 24% of males strongly associated with bilateral defects in the lateral semicircular canal (J:159227)

homeostasis/metabolism
• diabetic mutants (generated by treatment with streptozotocin, STZ) have increased blood glucose similar to STZ-treated wild-type mice (J:173500)
• diabetic mutants (generated by treatment with streptozotocin, STZ) have increased blood glucose similar to STZ-treated wild-type mice (J:173500)

renal/urinary system
• mice show attenuation of mesangial expansion compare to diabetic (STZ-treated) wild-type (J:173500)
• mice show attenuation of mesangial expansion compare to diabetic (STZ-treated) wild-type (J:173500)




Genotype
MGI:2664349
ht14
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• fewer PGCs due to a reduced founder population rather than impaired expansion (J:53311)
• estimated 62% reduction in PGC founder population of mice on the C57BL/6, CBA mixed background (J:53311)
• PGCs were absent in 9% of mutant mice on the C57BL/6, CBA mixed background (J:53311)
• fewer PGCs due to a reduced founder population rather than impaired expansion (J:53311)
• estimated 62% reduction in PGC founder population of mice on the C57BL/6, CBA mixed background (J:53311)
• PGCs were absent in 9% of mutant mice on the C57BL/6, CBA mixed background (J:53311)
• fewer Dppa3+ primordial germ cells than in wild-type mice (J:199855)
• fewer Dppa3+ primordial germ cells than in wild-type mice (J:199855)

behavior/neurological
• in 22 of 60 of mice with bilateral lateral semicircular canal defects (J:159227)
• in 22 of 60 of mice with bilateral lateral semicircular canal defects (J:159227)

hearing/vestibular/ear
• Background Sensitivity: only 9% of mice exhibit abnormal semicircular canal on a mixed 129S2/SvPas, C57BL/6, and CBA background compared to 70% of females and 62% of males on a mixed 129S2/SvPas and C57BL/6 background (J:159227)
• Background Sensitivity: only 9% of mice exhibit abnormal semicircular canal on a mixed 129S2/SvPas, C57BL/6, and CBA background compared to 70% of females and 62% of males on a mixed 129S2/SvPas and C57BL/6 background (J:159227)




Genotype
MGI:3774170
ht15
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * CAST/Ei
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: on a CAST/Ei background, only one of seven mice develops a cataract compared to multiple and variable eye abnormalities in mice on a C57BL/6J background (J:82877)
• Background Sensitivity: on a CAST/Ei background, only one of seven mice develops a cataract compared to multiple and variable eye abnormalities in mice on a C57BL/6J background (J:82877)




Genotype
MGI:2183180
ht16
Allelic
Composition
Bmp4tm1Blh/Bmp4tm3.1Blh
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp4tm3.1Blh mutation (0 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals at E17.5 have no apparent defects other than eye dysmorphology, but no live births are noted (J:75136)
• animals at E17.5 have no apparent defects other than eye dysmorphology, but no live births are noted (J:75136)

vision/eye




Genotype
MGI:3805994
ht17
Allelic
Composition
Bmp4tm1Blh/Bmp4tm4Blh
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp4tm4Blh mutation (0 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• percentage of mice display lateral canal truncation (J:136636)
• percentage of mice display lateral canal truncation (J:136636)




Genotype
MGI:3811284
ht18
Allelic
Composition
Bmp4tm1Blh/Bmp4tm3.1Blh
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp4tm3.1Blh mutation (0 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die between P1 and P7 (J:86001)
• die between P1 and P7 (J:86001)

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

vision/eye
• lack normal eyes (J:86001)
• lack normal eyes (J:86001)




Genotype
MGI:3805980
cn19
Allelic
Composition
Bmp4tm1Blh/Bmp4tm4Blh
Foxg1tm1(cre)Skm/Foxg1+
Genetic
Background
involves: 129 * Black Swiss * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp4tm4Blh mutation (0 available); any Bmp4 mutation (5 available)
Foxg1tm1(cre)Skm mutation (2 available); any Foxg1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• cochlear ducts show variability in length (J:136636)
• cochlear ducts show variability in length (J:136636)
• less severely affected embryos display truncation of lateral canals (J:136636)
• less severely affected embryos display truncation of lateral canals (J:136636)
• not discernible in most severely affected embryos at E13.5 (J:136636)
• not discernible in most severely affected embryos at E13.5 (J:136636)
• not discernible in most severely affected embryos at E13.5 (J:136636)
• not discernible in most severely affected embryos at E13.5 (J:136636)
• malformed in most severely affected embryos at E13.5 (J:136636)
• malformed in most severely affected embryos at E13.5 (J:136636)
• malformed in most severely affected embryos at E13.5 (J:136636)
• malformed in most severely affected embryos at E13.5 (J:136636)
• intact endolymphatic duct only is evident in dorsal region of inner ear (J:136636)
• intact endolymphatic duct only is evident in dorsal region of inner ear (J:136636)




Genotype
MGI:2679084
cn20
Allelic
Composition
Bmp4tm1Blh/Bmp4tm3.1Blh
Tg(Tnnt2-cre)5Blh/0
Genetic
Background
involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp4tm3.1Blh mutation (0 available); any Bmp4 mutation (5 available)
Tg(Tnnt2-cre)5Blh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no neonates are found (J:86001)
• no neonates are found (J:86001)

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 (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 (J:86001)
• present in 80% of embryos at E15.5 - E16.5 (J:86001)
• present in 80% of embryos at E15.5 - E16.5 (J:86001)
• single atrioventricular junction with a common valve (J:86001)
• single atrioventricular junction with a common valve (J:86001)

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




Genotype
MGI:3805991
cn21
Allelic
Composition
Bmp4tm1Blh/Bmp4tm4Blh
Tg(Pax2-cre)1Dje/0
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * Black Swiss * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp4tm4Blh mutation (0 available); any Bmp4 mutation (5 available)
Tg(Pax2-cre)1Dje mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• tow thirds of embryos have inner ear defects; more mildly affected embryos show defects in the three ampullae and canals (J:136636)
• tow thirds of embryos have inner ear defects; more mildly affected embryos show defects in the three ampullae and canals (J:136636)
• canal defects (in addition to lateral canal truncations) are observed in mildly affected embryos (J:136636)
• canal defects (in addition to lateral canal truncations) are observed in mildly affected embryos (J:136636)
• malformed in more severely affected embryos (J:136636)
• malformed in more severely affected embryos (J:136636)
• malformed in more severely affected embryos (J:136636)
• malformed in more severely affected embryos (J:136636)




Genotype
MGI:3834139
cx22
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Bmp8btm1Blh/Bmp8b+
Genetic
Background
involves: 129/Sv * 129S2/SvPas * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp8btm1Blh mutation (1 available); any Bmp8b mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• number of primordial germ cells is lower than in wild-type, but similar to numbers seen in Bmpb8 heterozygotes (J:63160)
• number of primordial germ cells is lower than in wild-type, but similar to numbers seen in Bmpb8 heterozygotes (J:63160)




Genotype
MGI:3849594
cx23
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Gpc3Gt(Ex136)Byg/Y
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Gpc3Gt(Ex136)Byg mutation (0 available); any Gpc3 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• bifurcated 5th digits frequently seen on forelimbs (J:64330)
• ectopic triphalangeal duplications branching from the 5th metatarsal (J:64330)
• 66% show show similar branched bifurcation of the right 5th digit of the hind limb (J:64330)
• bifurcated 5th digits frequently seen on forelimbs (J:64330)
• ectopic triphalangeal duplications branching from the 5th metatarsal (J:64330)
• 66% show show similar branched bifurcation of the right 5th digit of the hind limb (J:64330)

skeleton
• dual ossification centers along the length of the sternum (J:64330)
• dual ossification centers along the length of the sternum (J:64330)
• deformed (J:64330)
• deformed (J:64330)
(J:64330)
(J:64330)




Genotype
MGI:5510851
cx24
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Ctdnep1tm1Ryn/Ctdnep1tm1Ryn
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Ctdnep1tm1Ryn mutation (0 available); any Ctdnep1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• severely reduced as in Ctdnep1tm1Ryn homozygotes (J:199855)
• severely reduced as in Ctdnep1tm1Ryn homozygotes (J:199855)




Genotype
MGI:3805985
cx25
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Tg(Prdm14-Venus)1Sait/0
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Tg(Prdm14-Venus)1Sait mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• both the total number of primordial germ cells and YFP positive primordial germ cells are reduced compared to in wild-type mice (J:138571)
• both the total number of primordial germ cells and YFP positive primordial germ cells are reduced compared to in wild-type mice (J:138571)




Genotype
MGI:2166749
cx26
Allelic
Composition
Alx4tm1Rwi/Alx4+
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (3 available)
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• all double heterozygotes exhibit ectopic anterior digits only on the hindlimbs (J:42445)
• extra digit extends from a duplicated metatarsal (J:42445)
• extra digits are triphalangeal (J:42445)
• post axial "nubbins" also seen on the forelimbs of 80% of heterozygotes (J:42445)
• all double heterozygotes exhibit ectopic anterior digits only on the hindlimbs (J:42445)
• extra digit extends from a duplicated metatarsal (J:42445)
• extra digits are triphalangeal (J:42445)
• post axial "nubbins" also seen on the forelimbs of 80% of heterozygotes (J:42445)




Genotype
MGI:3047090
cx27
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Bmp7tm1Kry/Bmp7+
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Bmp7tm1Kry mutation (1 available); any Bmp7 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• double heterozygotes are viable, fertile and have normal size and weight (J:48538)
• double heterozygotes have normal size and shape of internal organs and of long bones (J:48538)
• double heterozygotes are viable, fertile and have normal size and weight (J:48538)
• double heterozygotes have normal size and shape of internal organs and of long bones (J:48538)

limbs/digits/tail
• in one case, digit I was partially triplicated, showing both a complete duplication and a biphalangeal extension of the most anterior extra digit I (J:48538)
• in all cases, none of the extra digits show more than two phalanges but always look like digit I (J:48538)
• no webbing is observed in the affected limbs of double heterozygotes (J:48538)
• in one case, digit I was partially triplicated, showing both a complete duplication and a biphalangeal extension of the most anterior extra digit I (J:48538)
• in all cases, none of the extra digits show more than two phalanges but always look like digit I (J:48538)
• no webbing is observed in the affected limbs of double heterozygotes (J:48538)
• duplication of the first digit is found at a much higher frequency (50%) in double heterozygotes compared to single Bmp4tm1Blh heterozygotes (18%) or Bmp7 heterozygotes (0%); the penetrance of this duplication is, however, lower in double heterozygotes than in Bmp7 homozygous null mice (67%) (J:48538)
• both in Bmp7 homozygous null mice and double heterozygotes, polydactyly primarily affects the right hindlimb than the left hind- or forelimb; however, effects are also observed bilaterally (J:48538)
• most double heterozygotes exhibit incomplete duplication, and the extra digit extends from metatarsal I (J:48538)
• duplication of the first digit is found at a much higher frequency (50%) in double heterozygotes compared to single Bmp4tm1Blh heterozygotes (18%) or Bmp7 heterozygotes (0%); the penetrance of this duplication is, however, lower in double heterozygotes than in Bmp7 homozygous null mice (67%) (J:48538)
• both in Bmp7 homozygous null mice and double heterozygotes, polydactyly primarily affects the right hindlimb than the left hind- or forelimb; however, effects are also observed bilaterally (J:48538)
• most double heterozygotes exhibit incomplete duplication, and the extra digit extends from metatarsal I (J:48538)

skeleton
• 44% of double heterozygotes display rib cage defects, including multiple misalignment of the rib pairs (J:48538)
• 44% of double heterozygotes display rib cage defects, including multiple misalignment of the rib pairs (J:48538)
• as a result of asymmetric rib attachment, the sternum has a sinusoidal appearance in severely affected mice (J:48538)
• as a result of asymmetric rib attachment, the sternum has a sinusoidal appearance in severely affected mice (J:48538)
• 11% of double heterozygotes have an abnormal xiphoid process: both the cartilaginous and ossified part of the xiphoid process are split medially (J:48538)
• 11% of double heterozygotes have an abnormal xiphoid process: both the cartilaginous and ossified part of the xiphoid process are split medially (J:48538)
• 44% of double heterozygotes display multiple misalignment of the rib pairs (J:48538)
• 44% of double heterozygotes display multiple misalignment of the rib pairs (J:48538)
• 11% of double heterozygotes display fusion of the ribs; this defect always affects two consecutive costal elements and appears to be limited to a single pair of ribs (J:48538)
• 11% of double heterozygotes display fusion of the ribs; this defect always affects two consecutive costal elements and appears to be limited to a single pair of ribs (J:48538)




Genotype
MGI:3849595
cx28
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Gpc3tm1Snd/Y
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Gpc3tm1Snd mutation (0 available); any Gpc3 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• bifurcated 5th digits frequently seen on forelimbs (J:64330)
• ectopic triphalangeal duplications branching from the 5th metatarsal (J:64330)
• 66% show show similar branched bifurcation of the right 5th digit of the hind limb (J:64330)
• bifurcated 5th digits frequently seen on forelimbs (J:64330)
• ectopic triphalangeal duplications branching from the 5th metatarsal (J:64330)
• 66% show show similar branched bifurcation of the right 5th digit of the hind limb (J:64330)

skeleton
• dual ossification centers along the length of the sternum (J:64330)
• dual ossification centers along the length of the sternum (J:64330)
• deformed (J:64330)
• deformed (J:64330)
(J:64330)
(J:64330)




Genotype
MGI:3044666
cx29
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Twsg1tm1Emdr/Twsg1tm1Emdr
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Twsg1tm1Emdr mutation (1 available); any Twsg1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• severe head malformations with 64% penetrance (J:90398)
• phenotype similar in newborns and at E15.5 (J:90398)
• severe head malformations with 64% penetrance (J:90398)
• phenotype similar in newborns and at E15.5 (J:90398)
• single nostril (J:90398)
• single nostril (J:90398)
• low "implantation" of external ears (J:90398)
• low "implantation" of external ears (J:90398)

hearing/vestibular/ear
• low "implantation" of external ears (J:90398)
• low "implantation" of external ears (J:90398)

limbs/digits/tail
• caudal vertebrae shorter than normal and bone is less dense (J:90398)
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks (J:90398)
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes (J:90398)
• caudal vertebrae shorter than normal and bone is less dense (J:90398)
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks (J:90398)
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes (J:90398)
• 80% of homozygotes with multiple kinks (J:90398)
• 80% of homozygotes with multiple kinks (J:90398)

respiratory system
• single nostril (J:90398)
• single nostril (J:90398)

skeleton
• caudal vertebrae shorter than normal and bone is less dense (J:90398)
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks (J:90398)
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes (J:90398)
• caudal vertebrae shorter than normal and bone is less dense (J:90398)
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks (J:90398)
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes (J:90398)

vision/eye
• lens did not develop (J:90398)
• lens did not develop (J:90398)
• retina did not develop (J:90398)
• retina did not develop (J:90398)

nervous system
• single cavity, lack of ventricle medial wall (holoprosencephaly) (J:90398)
• single cavity, lack of ventricle medial wall (holoprosencephaly) (J:90398)
• malformed prosencephalon (J:90398)
• malformed prosencephalon (J:90398)
• thickened basal diencephalons at the level of the hypothalamus (J:90398)
• thickened basal diencephalons at the level of the hypothalamus (J:90398)
• lateral ganglionic eminence is missing (J:90398)
• lateral ganglionic eminence is missing (J:90398)

digestive/alimentary system

growth/size/body
• single nostril (J:90398)
• single nostril (J:90398)
• low "implantation" of external ears (J:90398)
• low "implantation" of external ears (J:90398)




Genotype
MGI:3811812
cx30
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Gli3Xt-J/Gli3+
Genetic
Background
involves: 129S2/SvPas * C3H/HeJ * C57BL/6J * C57BL/6NHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (5 available)
Gli3Xt-J mutation (3 available); any Gli3 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• apoptotic area in the preaxial mesoderm is completely absent at 12.5 days (J:42445)
• post axial apoptotic areas are normal (J:42445)
• apoptotic area in the preaxial mesoderm is completely absent at 12.5 days (J:42445)
• post axial apoptotic areas are normal (J:42445)
• 100% with unilateral anterior polydactyly involving the hind limbs only (J:42445)
• defect extends into the metatarsals (J:42445)
• 100% with unilateral anterior polydactyly involving the hind limbs only (J:42445)
• defect extends into the metatarsals (J:42445)





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory