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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgf8tm1.3Mrt
targeted mutation 1.3, Gail R Martin
MGI:2150347
Summary 19 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgf8tm1.3Mrt/Fgf8tm1.3Mrt involves: 129P2/OlaHsd MGI:2176817
ht2
Fgf8tm1.2Mrt/Fgf8tm1.3Mrt involves: 129P2/OlaHsd MGI:2176818
cn3
Fgf8tm1.3Mrt/Fgf8tm1.3Mrt
Six1tm1(cre,ALPP)Xli/Six1+
involves: 129 * 129P2/OlaHsd * C57BL/6 MGI:5297340
cn4
Fgf8tm1.3Mrt/Fgf8tm2Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129 * 129S7/SvEvBrd MGI:3818073
cn5
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Msx2-cre)5Rem/0
involves: 129P2/OlaHsd MGI:2176849
cn6
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Foxg1tm1(cre)Skm/Foxg1+
involves: 129P2/OlaHsd MGI:3654831
cn7
Fgf8tm1.2Mrt/Fgf8tm1.3Mrt
Foxg1tm1(cre)Skm/Foxg1+
involves: 129P2/OlaHsd MGI:3720595
cn8
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(CAG-Bgeo,-Fgf4)1Mrt/?
Tg(Msx2-cre)5Rem/?
involves: 129P2/OlaHsd MGI:3832340
cn9
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sortm1Sor
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S7/SvEvBrd MGI:3818077
cn10
En1tm7(cre/ESR1)Alj/0
Fgf8tm1.1Jyhl/Fgf8tm1.3Mrt
involves: 129P2/OlaHsd * 129S6/SvEvTac MGI:4437222
cn11
En1tm7(cre/ESR1)Alj/0
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
involves: 129P2/OlaHsd * 129S6/SvEvTac MGI:4437223
cn12
En1tm7(cre/ESR1)Alj/0
Fgf8tm1.3Mrt/Fgf8tm2.1Jyhl
Gt(ROSA)26Sortm1Sor/0
involves: 129P2/OlaHsd * 129S6/SvEvTac MGI:4437229
cn13
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
involves: 129P2/OlaHsd * 129S7/SvEvBrd MGI:3641319
cn14
Fgf8tm1.3Mrt/Fgf8+
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
involves: 129P2/OlaHsd * 129S7/SvEvBrd MGI:3641320
cn15
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S7/SvEvBrd MGI:3818072
cn16
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Tnnt2-cre)5Blh/0
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * DBA/2 MGI:3818074
cn17
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(T-cre)1Lwd/0
involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1 MGI:3606231
cn18
Fgf8tm1.2Mrt/Fgf8tm1.3Mrt
Tg(Nes-cre)1Atp/0
involves: 129P2/OlaHsd * FVB/N MGI:2176845
cn19
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Tbx1-cre)1Joe/0
Not Specified MGI:3037863


Genotype
MGI:2176817
hm1
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.3Mrt
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:2176818
ht2
Allelic
Composition
Fgf8tm1.2Mrt/Fgf8tm1.3Mrt
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.2Mrt mutation (0 available); any Fgf8 mutation (8 available)
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:5297340
cn3
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.3Mrt
Six1tm1(cre,ALPP)Xli/Six1+
Genetic
Background
involves: 129 * 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Six1tm1(cre,ALPP)Xli mutation (0 available); any Six1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 83% display great vessel defects like cervical aortic arch or interrupted aortic arch type B (J:172023)
• embryos have severely hypoplastic proximal and distal outflow tract cushions compared to wild-type controls (J:172023)
• 83% display great vessel defects like cervical aortic arch or interrupted aortic arch type B (J:172023)
• embryos have severely hypoplastic proximal and distal outflow tract cushions compared to wild-type controls (J:172023)




Genotype
MGI:3818073
cn4
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm2Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129 * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm2Mrt mutation (1 available); any Fgf8 mutation (8 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• phenotype is stated to be identical to that of Fgf8tm1.3Mrt/ Fgf8tm1.4Mrt; Nkx2-5tm1(cre)Rjs/ Nkx2-5+ mutants; however no data are presented (J:109474)
• phenotype is stated to be identical to that of Fgf8tm1.3Mrt/ Fgf8tm1.4Mrt; Nkx2-5tm1(cre)Rjs/ Nkx2-5+ mutants; however no data are presented (J:109474)

embryogenesis
• at E9.5 cell proliferation in pharyngeal endoderm is reduced with cell mitotic indices decreased by 60% relative to controls (J:109474)
• at E9.5 cell proliferation in pharyngeal endoderm is reduced with cell mitotic indices decreased by 60% relative to controls (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5 (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5 (J:109474)
• thinning of splanchnic mesoderm (SM) layers (J:109474)
• at E9.5 cell proliferation in SM is reduced with cell mitotic indices decreased by 50% relative to controls (J:109474)
• excessive cell death is detected from E8.5-9.5 in SM immediately distal to emerging outflow tract and in endoderm adjacent to the SM (J:109474)
• thinning of splanchnic mesoderm (SM) layers (J:109474)
• at E9.5 cell proliferation in SM is reduced with cell mitotic indices decreased by 50% relative to controls (J:109474)
• excessive cell death is detected from E8.5-9.5 in SM immediately distal to emerging outflow tract and in endoderm adjacent to the SM (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5, as well as in presumptive cardiac neural crest cells in close proximity to outflow tract (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5, as well as in presumptive cardiac neural crest cells in close proximity to outflow tract (J:109474)

cardiovascular system
• phenotype is stated to be identical to that of Fgf8tm1.3Mrt/ Fgf8tm1.4Mrt; Nkx2-5tm1(cre)Rjs/ Nkx2-5+ mutants; however no data are presented (J:109474)
• phenotype is stated to be identical to that of Fgf8tm1.3Mrt/ Fgf8tm1.4Mrt; Nkx2-5tm1(cre)Rjs/ Nkx2-5+ mutants; however no data are presented (J:109474)
• anterior heart field (AHF) cells are mildly reduced compared to controls, resulting in thinning of splanchnic mesoderm (SM) layers (J:109474)
• at E9.5 cell proliferation in SM is reduced with cell mitotic indices decreased by 50% relative to controls; excessive cell death is detected from E8.5-9.5 in SM immediately distal to emerging outflow tract and in endoderm adjacent to the SM, with excessive cell death expanding into ventral pharyngeal endoderm by E9.5 but not in SM at this stage (J:109474)
• anterior heart field (AHF) cells are mildly reduced compared to controls, resulting in thinning of splanchnic mesoderm (SM) layers (J:109474)
• at E9.5 cell proliferation in SM is reduced with cell mitotic indices decreased by 50% relative to controls; excessive cell death is detected from E8.5-9.5 in SM immediately distal to emerging outflow tract and in endoderm adjacent to the SM, with excessive cell death expanding into ventral pharyngeal endoderm by E9.5 but not in SM at this stage (J:109474)

craniofacial
• at E9.5 cell proliferation in pharyngeal endoderm is reduced with cell mitotic indices decreased by 60% relative to controls (J:109474)
• at E9.5 cell proliferation in pharyngeal endoderm is reduced with cell mitotic indices decreased by 60% relative to controls (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5 (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5 (J:109474)

cellular
• indices are reduced by 50% and 60% in splanchnic mesoderm and pharyngeal endoderm at E9.5 (J:109474)
• indices are reduced by 50% and 60% in splanchnic mesoderm and pharyngeal endoderm at E9.5 (J:109474)

nervous system
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5, as well as in presumptive cardiac neural crest cells in close proximity to outflow tract (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5, as well as in presumptive cardiac neural crest cells in close proximity to outflow tract (J:109474)

growth/size/body
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5 (J:109474)
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5 (J:109474)




Genotype
MGI:2176849
cn5
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Msx2-cre)5Rem/0
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Tg(Msx2-cre)5Rem mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• forelimbs missing digit II or III (J:104411)
• hindlimb missing digit I (J:104411)
• forelimb digits I and V missing phalanges (J:104411)
• hindlimb digits II and V missing phalanges (J:104411)
• forelimbs missing digit II or III (J:104411)
• hindlimb missing digit I (J:104411)
• forelimb digits I and V missing phalanges (J:104411)
• hindlimb digits II and V missing phalanges (J:104411)
• mildly hypoplastic (J:104411)
• deltoid tuberosity missing (J:104411)
• mildly hypoplastic (J:104411)
• deltoid tuberosity missing (J:104411)
• zeugopod elements are mildly hypoplastic (J:66266)
• zeugopod elements are mildly hypoplastic (J:66266)
• radius is always absent in mutants (J:66266)
• radius is always absent in mutants (J:66266)
• stylopod is severely reduced in hindlimbs (11/19 bilaterally, 4/19 unilaterally) but only mildly affected in forelimbs (J:66266)
• stylopod is severely reduced in hindlimbs (11/19 bilaterally, 4/19 unilaterally) but only mildly affected in forelimbs (J:66266)
• zeugopod elements are mildly hypoplastic (J:66266)
• zeugopod elements are mildly hypoplastic (J:66266)
• limb buds are reduced in size detected at ~E10.25 (J:66266)
• limb buds are reduced in size detected at ~E10.25 (J:66266)
• digit I is missing in hindlimbs (13/19 bilaterally, 5/19 unilaterally) and digit II or III is missing in the forelimbs (12/19 bilaterally, 5/19 unilaterally) (J:66266)
• digit I is missing in hindlimbs (13/19 bilaterally, 5/19 unilaterally) and digit II or III is missing in the forelimbs (12/19 bilaterally, 5/19 unilaterally) (J:66266)

skeleton
• radius is always absent in mutants (J:66266)
• radius is always absent in mutants (J:66266)

embryogenesis
• limb buds are reduced in size detected at ~E10.25 (J:66266)
• limb buds are reduced in size detected at ~E10.25 (J:66266)

Mouse Models of Human Disease
OMIM ID Ref(s)
Tetralogy of Fallot; TOF 187500 J:66266




Genotype
MGI:3654831
cn6
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Foxg1tm1(cre)Skm/Foxg1+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Foxg1tm1(cre)Skm mutation (2 available); any Foxg1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe (J:111586)
• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe (J:111586)

cellular
• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe (J:111586)
• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe (J:111586)




Genotype
MGI:3720595
cn7
Allelic
Composition
Fgf8tm1.2Mrt/Fgf8tm1.3Mrt
Foxg1tm1(cre)Skm/Foxg1+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.2Mrt mutation (0 available); any Fgf8 mutation (8 available)
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Foxg1tm1(cre)Skm mutation (2 available); any Foxg1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant mice die at birth due to defects in forebrain development (J:122378)
• mutant mice die at birth due to defects in forebrain development (J:122378)

nervous system
• at birth, mutants exhibit lethal defects in forebrain development (J:122378)
• however, overall development of the inner ear and cochlea appeared normal (J:122378)
• at birth, mutants exhibit lethal defects in forebrain development (J:122378)
• however, overall development of the inner ear and cochlea appeared normal (J:122378)

hearing/vestibular/ear
• at E18.5, IHCs and OHCs appear to be in direct contact with each other in some cochlear sections (J:122378)
• at E18.5, IHCs and OHCs appear to be in direct contact with each other in some cochlear sections (J:122378)
• at E18.5, mutant mice show a significant reduction in the size and number of pillar cells (PCs) relative to control mice (J:122378)
• at E18.5, mutant mice show a significant reduction in the size and number of pillar cells (PCs) relative to control mice (J:122378)
• at E18.5, the distance between the lateral edge of the IHC and the medial edge of the first row OHC (a measure of the degree of PC development) is significantly decreased along the length of the cochlea (J:122378)
• at E18.5, PCs with weak or no lumenal projections are noted along the entire cochlear length with no region-specific variations (J:122378)
• at E18.5, the distance between the lateral edge of the IHC and the medial edge of the first row OHC (a measure of the degree of PC development) is significantly decreased along the length of the cochlea (J:122378)
• at E18.5, PCs with weak or no lumenal projections are noted along the entire cochlear length with no region-specific variations (J:122378)
• at E18.5, pillar cells are missing or underdeveloped (J:122378)
• at E18.5, pillar cells are missing or underdeveloped (J:122378)
• at E18.5, lumenal surface of the organ of Corti shows disruption of pillar cell growth and close approximation of IHCs to OHCs (J:122378)
• however, the overall structure of the epithelium and putative developing pillar cells are normal up to E15 (J:122378)
• at E18.5, lumenal surface of the organ of Corti shows disruption of pillar cell growth and close approximation of IHCs to OHCs (J:122378)
• however, the overall structure of the epithelium and putative developing pillar cells are normal up to E15 (J:122378)

cellular
• at E18.5, the distance between the lateral edge of the IHC and the medial edge of the first row OHC (a measure of the degree of PC development) is significantly decreased along the length of the cochlea (J:122378)
• at E18.5, PCs with weak or no lumenal projections are noted along the entire cochlear length with no region-specific variations (J:122378)
• at E18.5, the distance between the lateral edge of the IHC and the medial edge of the first row OHC (a measure of the degree of PC development) is significantly decreased along the length of the cochlea (J:122378)
• at E18.5, PCs with weak or no lumenal projections are noted along the entire cochlear length with no region-specific variations (J:122378)




Genotype
MGI:3832340
cn8
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(CAG-Bgeo,-Fgf4)1Mrt/?
Tg(Msx2-cre)5Rem/?
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Tg(CAG-Bgeo,-Fgf4)1Mrt mutation (0 available)
Tg(Msx2-cre)5Rem mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
N
• reversal of abnormalities resulting from loss of Fgf8 alone (J:104411)
• deltoid tuberosity is normal (J:104411)
• reversal of abnormalities resulting from loss of Fgf8 alone (J:104411)
• deltoid tuberosity is normal (J:104411)
• phenotype due to conditional over expression of Fgf4 retained (J:104411)
• phenotype due to conditional over expression of Fgf4 retained (J:104411)

growth/size/body

vision/eye

reproductive system

embryogenesis

skeleton




Genotype
MGI:3818077
cn9
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sortm1Sor
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Gt(ROSA)26Sortm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (305 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• anterior heart field (AHF) cells are lost compared to controls; numbers of B-gal +ve cells in splanchnic mesoderm (SM) and pharyngeal endoderm are significantly reduced, causing thinning of these cell layers (J:109474)
• number of positive cells in pharyngeal arch core mesoderm (CM) is significantly decreased also (J:109474)
• anterior heart field (AHF) cells are lost compared to controls; numbers of B-gal +ve cells in splanchnic mesoderm (SM) and pharyngeal endoderm are significantly reduced, causing thinning of these cell layers (J:109474)
• number of positive cells in pharyngeal arch core mesoderm (CM) is significantly decreased also (J:109474)

embryogenesis
• thinning of splanchnic mesoderm due to significantly reduced numbers of B-gal +ve cells (J:109474)
• thinning of splanchnic mesoderm due to significantly reduced numbers of B-gal +ve cells (J:109474)




Genotype
MGI:4437222
cn10
Allelic
Composition
En1tm7(cre/ESR1)Alj/0
Fgf8tm1.1Jyhl/Fgf8tm1.3Mrt
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm7(cre/ESR1)Alj mutation (1 available); any En1 mutation (8 available)
Fgf8tm1.1Jyhl mutation (0 available); any Fgf8 mutation (8 available)
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die at birth (J:156717)
• die at birth (J:156717)

nervous system
• a significant increase in the number of dead cells in the mesencephalon and to a less extent in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)
• a significant increase in the number of dead cells in the mesencephalon and to a less extent in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)
• a significant increase in the number of dead cells in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)
• a significant increase in the number of dead cells in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)
• a reduction of serotonergic neurons in raphe nuclei (J:156717)
• a reduction of serotonergic neurons in raphe nuclei (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• a significant increase in the number of dead cells in the mesencephalon at the 13-somite stage (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• a significant increase in the number of dead cells in the mesencephalon at the 13-somite stage (J:156717)
• depletion of dopaminergic neurons at E18.5 (J:156717)
• depletion of dopaminergic neurons at E18.5 (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• at E18.5 in the substantia nigra and ventral tegmental area (J:156717)
• at E18.5 in the substantia nigra and ventral tegmental area (J:156717)
• at E18.5 a reduction of serotonergic neurons in the raphe nucleus (J:156717)
• at E18.5 a reduction of serotonergic neurons in the raphe nucleus (J:156717)

embryogenesis
• a significant increase in the number of dead cells in the mesencephalon and to a less extent in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)
• a significant increase in the number of dead cells in the mesencephalon and to a less extent in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)
• a significant increase in the number of dead cells in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)
• a significant increase in the number of dead cells in rhombomere of the neural tube of embryos at the 13-somite stage (J:156717)




Genotype
MGI:4437223
cn11
Allelic
Composition
En1tm7(cre/ESR1)Alj/0
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm7(cre/ESR1)Alj mutation (1 available); any En1 mutation (8 available)
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• a reduction of serotonergic neurons in raphe nuclei (J:156717)
• a reduction of serotonergic neurons in raphe nuclei (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• depletion of dopaminergic neurons at E18.5 (J:156717)
• depletion of dopaminergic neurons at E18.5 (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum (J:156717)
• at E18.5 in the substantia nigra and ventral tegmental area (J:156717)
• at E18.5 in the substantia nigra and ventral tegmental area (J:156717)
• at E18.5 a reduction of serotonergic neurons in the raphe nucleus (J:156717)
• at E18.5 a reduction of serotonergic neurons in the raphe nucleus (J:156717)




Genotype
MGI:4437229
cn12
Allelic
Composition
En1tm7(cre/ESR1)Alj/0
Fgf8tm1.3Mrt/Fgf8tm2.1Jyhl
Gt(ROSA)26Sortm1Sor/0
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm7(cre/ESR1)Alj mutation (1 available); any En1 mutation (8 available)
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm2.1Jyhl mutation (0 available); any Fgf8 mutation (8 available)
Gt(ROSA)26Sortm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (305 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• unlike mice homozygous for Fgf8tm2.1Jyhl, mice are normal in size (J:156717)
• unlike mice homozygous for Fgf8tm2.1Jyhl, mice are normal in size (J:156717)

nervous system
N
• unlike mice homozygous for Fgf8tm2.1Jyhl, the size of the midbrain and cerebellum are normal (J:156717)
• unlike mice homozygous for Fgf8tm2.1Jyhl, the size of the midbrain and cerebellum are normal (J:156717)




Genotype
MGI:3641319
cn13
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Tbx1tm4(cre/Esr1*)Bld mutation (1 available); any Tbx1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• defects are seen in 81, 88, and 89% of fetuses at E18.5 when tamoxifen is administered at E7.5, 8.5 or 9.5 respectively (J:110620)
• defects are seen in 81, 88, and 89% of fetuses at E18.5 when tamoxifen is administered at E7.5, 8.5 or 9.5 respectively (J:110620)




Genotype
MGI:3641320
cn14
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8+
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Tbx1tm4(cre/Esr1*)Bld mutation (1 available); any Tbx1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• defects are seen in 52, 32, and 63% of fetuses at E18.5 when tamoxifen is administered at E7.5, 8.5 or 9.5 respectively (J:110620)
• defects are seen in 52, 32, and 63% of fetuses at E18.5 when tamoxifen is administered at E7.5, 8.5 or 9.5 respectively (J:110620)




Genotype
MGI:3818072
cn15
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant embryos are present at expected ratio up to E9.5, but a marked reduction is observed at later times with no surviving mutants by E10.5 (J:109474)
• mutant embryos are present at expected ratio up to E9.5, but a marked reduction is observed at later times with no surviving mutants by E10.5 (J:109474)

embryogenesis
• arches are hypoplastic at E9.5 (J:109474)
• arches are hypoplastic at E9.5 (J:109474)

cardiovascular system
• at E9.5, heart tube is severely truncated (J:109474)
• at E9.5, heart tube is severely truncated (J:109474)
• presumptive outflow tract (OT) is almost completely absent at E9.5; only a small segment of myocardium joins left ventricle to aortic sac (J:109474)
• presumptive outflow tract (OT) is almost completely absent at E9.5; only a small segment of myocardium joins left ventricle to aortic sac (J:109474)
• both atria are slightly dilated at E9.5 (J:109474)
• both atria are slightly dilated at E9.5 (J:109474)
• slightly at E9.5 (J:109474)
• slightly at E9.5 (J:109474)
• almost completely absent at E9.5 (J:109474)
• almost completely absent at E9.5 (J:109474)

craniofacial
• arches are hypoplastic at E9.5 (J:109474)
• arches are hypoplastic at E9.5 (J:109474)




Genotype
MGI:3818074
cn16
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Tnnt2-cre)5Blh/0
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Tg(Tnnt2-cre)5Blh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• no outflow tract or right ventricle defects are observed at E10.5 and no outflow tract septation defects are seen in term fetuses (J:109474)
• no outflow tract or right ventricle defects are observed at E10.5 and no outflow tract septation defects are seen in term fetuses (J:109474)




Genotype
MGI:3606231
cn17
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(T-cre)1Lwd/0
Genetic
Background
involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Tg(T-cre)1Lwd mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants die shortly after birth (J:101175)
• mutants die shortly after birth (J:101175)

renal/urinary system
• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia (J:101175)
• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia (J:101175)
• no glomeruli are present at any stage of kidney development (J:101175)
• no glomeruli are present at any stage of kidney development (J:101175)
• at E14.5 mutant kidneys show only condensation and renal vesicle formation and not tubulogenesis or glomerulogenesis that are seen in wild-type mice (J:101175)
• at E16.5 evidence of cap formation is mostly missing and few vesicles remain in the mutant kidneys and those remaining vesicles do not show signs of tubulogenesis (J:101175)
• at E18.5 the hypocellular kidney is largely devoid of nephron epithelia (J:101175)
• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia (J:101175)
• at E14.5 mutant kidneys show only condensation and renal vesicle formation and not tubulogenesis or glomerulogenesis that are seen in wild-type mice (J:101175)
• at E16.5 evidence of cap formation is mostly missing and few vesicles remain in the mutant kidneys and those remaining vesicles do not show signs of tubulogenesis (J:101175)
• at E18.5 the hypocellular kidney is largely devoid of nephron epithelia (J:101175)
• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia (J:101175)
• at E18.5 the few remaining ureteric bud radii fail to bifurcate in the cortical nephrogenic region; however, somite formation, tendon progenitor populations fro E10.5 - E14.5, and limb bud induction are normal (J:101175)
• at E18.5 the few remaining ureteric bud radii fail to bifurcate in the cortical nephrogenic region; however, somite formation, tendon progenitor populations fro E10.5 - E14.5, and limb bud induction are normal (J:101175)
• at E14.5 ureteric bud branching is dramatically reduced (J:101175)
• at E14.5 ureteric bud branching is dramatically reduced (J:101175)

limbs/digits/tail
• most mutants lack at least one hindlimb digit; however, limb bud induction is normal (J:101175)
• most mutants lack at least one hindlimb digit; however, limb bud induction is normal (J:101175)

skeleton
N
• no defects are seen in skeletal development including rib formation (J:101175)
• no defects are seen in skeletal development including rib formation (J:101175)

cellular
• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia (J:101175)
• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia (J:101175)




Genotype
MGI:2176845
cn18
Allelic
Composition
Fgf8tm1.2Mrt/Fgf8tm1.3Mrt
Tg(Nes-cre)1Atp/0
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.2Mrt mutation (0 available); any Fgf8 mutation (8 available)
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Tg(Nes-cre)1Atp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants die shortly after birth; lungs do not inflate so death is probably from anoxia (J:58999)
• mutants die shortly after birth; lungs do not inflate so death is probably from anoxia (J:58999)

embryogenesis
• at E9.0 the first branchial arch is smaller than in wild-type (J:58999)
• at E9.0 the first branchial arch is smaller than in wild-type (J:58999)

cellular
• at E8.75-10 extensive cell death is observed; at E9.5 the region with dying cells stretches proximally to the trigeminal swelling and included the maxillary arch-forming region (J:58999)
• at E8.75-10 extensive cell death is observed; at E9.5 the region with dying cells stretches proximally to the trigeminal swelling and included the maxillary arch-forming region (J:58999)

craniofacial
• mutants have severe craniofacial defects; some mutants show a less severe phenotype with a small increase in dermal bone development and abnormalities are often observed on only one side of the head (J:58999)
• mutants have severe craniofacial defects; some mutants show a less severe phenotype with a small increase in dermal bone development and abnormalities are often observed on only one side of the head (J:58999)
• there is little expansion of the mandible primordia as embryos mature; growth is not completely arrested as the mandibular primordial extend distally and meet at the midline (J:58999)
• there is little expansion of the mandible primordia as embryos mature; growth is not completely arrested as the mandibular primordial extend distally and meet at the midline (J:58999)
• there is little expansion of the maxilla primordia as embryos mature (J:58999)
• there is little expansion of the maxilla primordia as embryos mature (J:58999)
• incus and ala temporalis fail to form (J:58999)
• incus and ala temporalis fail to form (J:58999)
• there is an ectodermal covering over the prospective mouth (J:58999)
• there is an ectodermal covering over the prospective mouth (J:58999)
• body of Meckel's cartilage fails to develop (J:58999)
• body of Meckel's cartilage fails to develop (J:58999)
• at E9.0 the first branchial arch is smaller than in wild-type (J:58999)
• at E9.0 the first branchial arch is smaller than in wild-type (J:58999)
• newborns have small disorganized tongues (J:58999)
• newborns have small disorganized tongues (J:58999)
• molars are absent but vestigal lower incisors are present in association with the rostral process (J:58999)
• molars are absent but vestigal lower incisors are present in association with the rostral process (J:58999)

nervous system
• the mandibular division of the trigeminal nerve is truncated and misrouted (J:58999)
• the mandibular division of the trigeminal nerve is truncated and misrouted (J:58999)

hearing/vestibular/ear
• incus and ala temporalis fail to form (J:58999)
• incus and ala temporalis fail to form (J:58999)

digestive/alimentary system
• newborns have small disorganized tongues (J:58999)
• newborns have small disorganized tongues (J:58999)

skeleton
• there is little expansion of the mandible primordia as embryos mature; growth is not completely arrested as the mandibular primordial extend distally and meet at the midline (J:58999)
• there is little expansion of the mandible primordia as embryos mature; growth is not completely arrested as the mandibular primordial extend distally and meet at the midline (J:58999)
• there is little expansion of the maxilla primordia as embryos mature (J:58999)
• there is little expansion of the maxilla primordia as embryos mature (J:58999)
• incus and ala temporalis fail to form (J:58999)
• incus and ala temporalis fail to form (J:58999)
• body of Meckel's cartilage fails to develop (J:58999)
• body of Meckel's cartilage fails to develop (J:58999)

growth/size/body
• newborns have small disorganized tongues (J:58999)
• newborns have small disorganized tongues (J:58999)
• molars are absent but vestigal lower incisors are present in association with the rostral process (J:58999)
• molars are absent but vestigal lower incisors are present in association with the rostral process (J:58999)




Genotype
MGI:3037863
cn19
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Tbx1-cre)1Joe/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (8 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (8 available)
Tg(Tbx1-cre)1Joe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die between E18.5 and P1 (J:88814)
• most mice die between E18.5 and P1 (J:88814)

cardiovascular system
N
• some defects observed as a result of Tbx1-deficiency, including those involving the aortic arch, were not observed (J:88814)
• some defects observed as a result of Tbx1-deficiency, including those involving the aortic arch, were not observed (J:88814)
• exhibit variable cardiovascular patterning defects listed below (J:88814)
• exhibit variable cardiovascular patterning defects listed below (J:88814)
• duplication of the internal carotid arteries (J:88814)
• duplication of the internal carotid arteries (J:88814)
• impaired differentiation in the great vessels (J:88814)
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle (J:88814)
• impaired differentiation in the great vessels (J:88814)
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle (J:88814)
• Tetrology of Fallot (J:88814)
• Tetrology of Fallot (J:88814)
• atrial septal defects (J:88814)
• atrial septal defects (J:88814)
• ventricular septal defects (J:88814)
• ventricular septal defects (J:88814)

immune system
• some exhibit a single lobed thymus (J:88814)
• some exhibit a single lobed thymus (J:88814)

muscle
• impaired differentiation in the great vessels (J:88814)
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle (J:88814)
• impaired differentiation in the great vessels (J:88814)
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle (J:88814)

hematopoietic system
• some exhibit a single lobed thymus (J:88814)
• some exhibit a single lobed thymus (J:88814)

endocrine/exocrine glands
• some exhibit a single lobed thymus (J:88814)
• some exhibit a single lobed thymus (J:88814)

Mouse Models of Human Disease
OMIM ID Ref(s)
DiGeorge Syndrome; DGS 188400 J:88814





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory