Phenotypes associated with this allele

• Allele Symbol: Foxa2^tm1Jrt
• Allele Name: targeted mutation 1, Janet Rossant
• Allele ID: MGI:1857725
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxa2^tm1Jrt/Foxa2^tm1Jrt	involves: 129S1/Sv * 129X1/SvJ	MGI:3663268
hm2	Foxa2^tm1Jrt/Foxa2^tm1Jrt	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3700819
hm3	Foxa2^tm1Jrt/Foxa2^tm1Jrt	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2177170
ht4	Foxa2^tm1Jrt/Foxa2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3625857
ht5	Foxa2^tm1Jrt/Foxa2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2177168
ht6	Foxa2^tm1Jrt/Foxa2^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2177169
cn7	Foxa2^tm1Jrt/Foxa2^tm1Khk Tg(Nes-cre)1Wme/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3029694
cx8	Foxa2^tm1Jrt/Foxa2^+ Gsc^tm1Bhr/Gsc^tm1Bhr	involves: 129 * C57BL/6 * CD-1	MGI:2169198
cx9	Foxa2^tm1Jrt/Foxa2^+ Nodal^tm1Rob/Nodal^+	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:3625856
cx10	Foxa2^tm1Jrt/Foxa2^tm1Jrt Gsc^tm1Bhr/Gsc^tm1Bhr	involves: 129/Sv * C57BL/6 * CD-1	MGI:3716760
cx11	Foxa2^tm1Jrt/Foxa2^tm1Jrt Gsc^tm1Bhr/Gsc^+	involves: 129/Sv * C57BL/6 * CD-1	MGI:3716761

Genotype
MGI:3663268

hm1

• Allelic Composition: Foxa2^tm1Jrt/Foxa2^tm1Jrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

embryo

abnormal rostral-caudal axis patterning ( J:74124 )

• A-P axis appears to be aligned incorrectly and the anterior pole of the axis remains in the distal region of the embryo

absent primitive node ( J:74124 )

• absence of a distinct node

abnormal primitive streak formation ( J:74124 )

• the streak is incorrectly positioned in the proximal region of the epiblast

abnormal primitive streak elongation ( J:74124 )

• primitive streak does not extend the full length of the posterior side of the embryo

Genotype
MGI:3700819

hm2

• Allelic Composition: Foxa2^tm1Jrt/Foxa2^tm1Jrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

cellular

increased embryonic tissue cell apoptosis ( J:50810 )

• embryos exhibit an increase in overall level of cell death; cell death is higher in the region distal to the primitive streak than in the proximal region of the E6.5 embryo

embryo

increased embryonic tissue cell apoptosis ( J:50810 )

• embryos exhibit an increase in overall level of cell death; cell death is higher in the region distal to the primitive streak than in the proximal region of the E6.5 embryo

absent mesoderm ( J:50810 )

Genotype
MGI:2177170

hm3

• Allelic Composition: Foxa2^tm1Jrt/Foxa2^tm1Jrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:19895 )

• die between E9.5 and E11.5

embryo

increased embryonic tissue cell apoptosis ( J:50810 )

• embryos exhibit an increase in overall level of cell death; cell death is higher in the region distal to the primitive streak than in the proximal region of the E6.5 embryo

abnormal developmental patterning ( J:19895 )

abnormal rostral-caudal axis patterning ( J:19895 )

• at E9.5 in less severely affected embryos the anterior structures are either misshapen or truncated

rostral body truncation ( J:19895 )

• at E9.5 in less severely affected embryos the anterior structures may be truncated

abnormal embryonic tissue morphology ( J:19895 )

• by E7.5 the embryonic tissues are reduced in size and abnormally shaped

• at E8.5 in severely affected embryos only a small structure links the posterior end of the embryo to the exocoelom and few embryonic tissues are recognizable

abnormal primitive endoderm morphology ( J:19895 )

• at E6.5 primitive endoderm cells accumulate at the distal tip of the embryo and these cells appear rough and dull

absent mesoderm ( J:50810 )

abnormal neural tube morphology ( J:19895 )

• in less severely affected embryos the anterior neural tube is abnormal

• dorso-ventral patterning of the neural tube is abnormal

absent floor plate ( J:19895 )

kinked neural tube ( J:19895 )

• in less severely affected embryos the posterior neural tube is kinked

absent notochord ( J:19895 )

absent primitive node ( J:19895 )

• at E7.5 no definitive node structure is detected

• cells expressing Gsc fail to migrate to the node

abnormal primitive streak formation ( J:19895 )

• at E7.5 only the region of the primitive streak closest to the embryonic extraembryonic tissue boundary is present

abnormal somite shape ( J:19895 )

• in less severely affected embryos the somites are irregularly shaped

decreased somite size ( J:19895 )

• in less severely affected embryos the somites are small

fused somites ( J:19895 )

• in less severely affected embryos the somites are often fused at the midline

embryonic-extraembryonic boundary constriction ( J:19895 )

• at E6.5 an abnormal constriction between the embryonic and extraembryonic tissue is seen

nervous system

abnormal neural tube morphology ( J:19895 )

• in less severely affected embryos the anterior neural tube is abnormal

• dorso-ventral patterning of the neural tube is abnormal

absent floor plate ( J:19895 )

kinked neural tube ( J:19895 )

• in less severely affected embryos the posterior neural tube is kinked

digestive/alimentary system

abnormal foregut morphology ( J:19895 )

• at E8.5 no signs of gut development are seen however by E9.5 a closed gut like structure is seen ventral to the spinal cord in the trunk region of some embryos

• at E9.5 in the anterior portion of the embryo cell expressing gut markers are found on the outside rather than the inside of the embryo suggesting failure of invagination

cellular

increased embryonic tissue cell apoptosis ( J:50810 )

• embryos exhibit an increase in overall level of cell death; cell death is higher in the region distal to the primitive streak than in the proximal region of the E6.5 embryo

Genotype
MGI:3625857

ht4

• Allelic Composition: Foxa2^tm1Jrt/Foxa2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

premature death ( J:19895 )

• some of those that survive until weaning die by 3 months of age

postnatal lethality ( J:19895 )

• Background Sensitivity: loss prior to weaning is higher on a mixed 129 and C57BL/6 background than on a 129 background

craniofacial

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

behavior/neurological

hunched posture ( J:19895 )

• seen in those that die by 3 months of age

circling ( J:19895 )

• seen in those that die by 3 months of age

growth/size/body

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

decreased body size ( J:19895 )

• seen in those that die by 3 months of age

skeleton

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

Genotype
MGI:2177168

ht5

• Allelic Composition: Foxa2^tm1Jrt/Foxa2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:19895 )

• some of those that survive until weaning die by 3 months of age

postnatal lethality ( J:19895 )

• Background Sensitivity: loss prior to weaning is higher on a mixed 129 and C57BL/6 background than on a 129 background

craniofacial

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

behavior/neurological

hunched posture ( J:19895 )

• seen in those that die by 3 months of age

circling ( J:19895 )

• seen in those that die by 3 months of age

growth/size/body

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

decreased body size ( J:19895 )

• seen in those that die by 3 months of age

skeleton

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

Genotype
MGI:2177169

ht6

• Allelic Composition: Foxa2^tm1Jrt/Foxa2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

mortality/aging

premature death ( J:19895 )

• about 20% of those that survive until weaning die by 3 months of age and display abnormalities

postnatal lethality ( J:19895 )

• Background Sensitivity: loss prior to weaning is higher on a mixed 129 and C57BL/6 background than on a 129 background or mixed 129 and CD-1 background

craniofacial

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

behavior/neurological

hunched posture ( J:19895 )

• seen in those that die by 3 months of age

circling ( J:19895 )

• seen in those that die by 3 months of age

growth/size/body

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

decreased body size ( J:19895 )

• seen in those that die by 3 months of age

skeleton

long incisors ( J:19895 )

• overgrowth of the upper and lower incisors is seen in mice with malocclusion

malocclusion ( J:19895 )

• malocclusion of the jaws is seen in those that die by 3 months of age

Genotype
MGI:3029694

cn7

• Allelic Composition: Foxa2^tm1Jrt/Foxa2^tm1Khk; Tg(Nes-cre)1Wme/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:75055 )

• mutant embryos die at E11.5

embryo

abnormal mesendoderm development ( J:75055 )

• the axial mesendoderm failed to differentiate; the anterior neural plate and anterior definitive endoderm form, but fail to maintain specification

nervous system

abnormal forebrain morphology ( J:75055 )

• anterior head truncations were noted in mutant animals

Genotype
MGI:2169198

cx8

• Allelic Composition: Foxa2^tm1Jrt/Foxa2⁺; Gsc^tm1Bhr/Gsc^tm1Bhr
• Genetic Background: involves: 129 * C57BL/6 * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:41809 )

• die around E11.5

embryo

abnormal pharyngeal arch morphology ( J:41809 )

• abnormal at E8.75

abnormal first pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the first branchial arches

• the first branchial arch arteries are either not visible or poorly formed

• epithelium of the first arch fails to fuse ventrally with the pharyngeal endoderm

abnormal first pharyngeal arch artery morphology ( J:41809 )

• the first branchial arch arteries are either not visible or poorly formed

small first pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells

abnormal second pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the second branchial arches

small second pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells

abnormal embryo development ( J:41809 )

• at E8.75 defects are seen in the anterior end of the embryo including the region of the heart; however, development posterior to the heart is normal

• variable severity of the defects at E9.0 - E9.5

abnormal dorsal-ventral axis patterning ( J:41809 )

• at E9.0 - E9.5 dorsal-ventral patterning of the forebrain is abnormal

• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures

• however, anterior-posterior patterning of the neural tube is unaffected

embryonic growth arrest ( J:41809 )

• arrest around the 20 - 25 somite stage

embryonic growth retardation ( J:41809 )

• at E9.0 - E9.5

abnormal neural tube morphology ( J:41809 )

• at E9.5 in severely affected embryos the floor and roof of the neural tube are in contact with each other at the diencephalic-mesencephalic junction

• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures

• however, anterior-posterior patterning of the neural tube is unaffected

decreased embryonic neuroepithelium thickness ( J:41809 )

• at E9.5 in less severely affected embryos thinning of the neuroepithelium is seen in the forebrain, hindbrain, and spinal cord

• reduction in neuroepithelium is most severe in the forebrain

abnormal notochord morphology ( J:41809 )

• in severely affected embryos notochord cells disappear from the rostral half of the embryo by E9.5

• however, in less severely affected embryos notochord cells are maintained

decreased somite size ( J:41809 )

• reduced in size at E9.0 - E9.5

cardiovascular system

abnormal dorsal aorta morphology ( J:41809 )

• at E9.5 the dorsal aorta is elongated, enlarged, or disorganized

abnormal first pharyngeal arch artery morphology ( J:41809 )

• the first branchial arch arteries are either not visible or poorly formed

abnormal anterior cardinal vein morphology ( J:41809 )

• greatly enlarged anterior cardinal veins at E9.5

abnormal heart development ( J:41809 )

• by E9.5, the dorsal mesocardium fails to form resulting in connection of the heart to the gut

abnormal heart looping ( J:41809 )

• defects in heart looping are seen at E8.75

• at E9.5 the heart is a straight or S-shaped tube at the midline

absent dorsal mesocardium ( J:41809 )

• the dorsal mesocardium fails to form

vision/eye

abnormal optic vesicle formation ( J:41809 )

• smaller at E9.5 in less severely affected embryos

absent optic vesicle ( J:41809 )

• at E9.5 in more severely affected embryos the optic vesicle is lost as a result of lack of maintenance as optic vesicles are present at E8.75

nervous system

abnormal neural tube morphology ( J:41809 )

• at E9.5 in severely affected embryos the floor and roof of the neural tube are in contact with each other at the diencephalic-mesencephalic junction

• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures

• however, anterior-posterior patterning of the neural tube is unaffected

decreased embryonic neuroepithelium thickness ( J:41809 )

• at E9.5 in less severely affected embryos thinning of the neuroepithelium is seen in the forebrain, hindbrain, and spinal cord

• reduction in neuroepithelium is most severe in the forebrain

abnormal brain morphology ( J:41809 )

abnormal forebrain development ( J:41809 )

• dorsal-ventral patterning is abnormal

decreased forebrain size ( J:41809 )

• dramatically reduced at E8.75

decreased hindbrain size ( J:41809 )

• reduced in size at E9.0 - E9.5

decreased spinal cord size ( J:41809 )

• at E9.0 - E9.5

respiratory system

abnormal pharynx morphology ( J:41809 )

• smaller and abnormally shaped

small pharynx ( J:41809 )

growth/size/body

embryonic growth retardation ( J:41809 )

• at E9.0 - E9.5

craniofacial

abnormal pharyngeal arch morphology ( J:41809 )

• abnormal at E8.75

abnormal first pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the first branchial arches

• the first branchial arch arteries are either not visible or poorly formed

• epithelium of the first arch fails to fuse ventrally with the pharyngeal endoderm

abnormal first pharyngeal arch artery morphology ( J:41809 )

• the first branchial arch arteries are either not visible or poorly formed

small first pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells

abnormal second pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the second branchial arches

small second pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells

Genotype
MGI:3625856

cx9

• Allelic Composition: Foxa2^tm1Jrt/Foxa2⁺; Nodal^tm1Rob/Nodal⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

embryo

abnormal direction of embryo turning ( J:32935 )

• in embryos with loss of left-right asymmetry in Nodal expression the direction of turning is randomized

delayed embryo turning ( J:32935 )

• seen in all embryos

growth/size/body

situs ambiguus ( J:32935 )

• in 7 of 10 mutants the positioning of the abdominal viscera and heart is abnormal

Genotype
MGI:3716760

cx10

• Allelic Composition: Foxa2^tm1Jrt/Foxa2^tm1Jrt; Gsc^tm1Bhr/Gsc^tm1Bhr
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

embryo

abnormal embryo development ( J:41809 )

• phenotype at E9.5 is similar to that of Foxa2 single homozygotes with no increase in the severity of the defect in development of the anterior posterior axis

decreased embryo size ( J:41809 )

• embryos are small and thin

growth/size/body

decreased embryo size ( J:41809 )

• embryos are small and thin

Genotype
MGI:3716761

cx11

• Allelic Composition: Foxa2^tm1Jrt/Foxa2^tm1Jrt; Gsc^tm1Bhr/Gsc⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

embryo

abnormal embryo development ( J:41809 )

• phenotype at E9.5 is similar to that of Foxa2 single homozygotes with no increase in the severity of the defect in development of the anterior posterior axis

decreased embryo size ( J:41809 )

• embryos are small and thin

growth/size/body

decreased embryo size ( J:41809 )

• embryos are small and thin