All Phenotypes Pitx2<tm2.1Jfm> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pitx2^tm2.1Jfm
targeted mutation 2.1, James F Martin
MGI:2136271

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitx2^tm2.1Jfm/Pitx2^tm2.1Jfm	involves: 129S4/SvJaeSor	MGI:3587783
hm2	Pitx2^tm2.1Jfm/Pitx2^tm2.1Jfm	involves: 129S4/SvJaeSor * C57BL/6J	MGI:3587781
ht3	Pitx2^tm2.1Jfm/Pitx2^tm3.1Jfm	involves: 129S4/SvJaeSor	MGI:3587782
ht4	Pitx2^tm2Jfm/Pitx2^tm2.1Jfm	involves: 129S4/SvJaeSor	MGI:3587784
ht5	Pitx2^tm1Jfm/Pitx2^tm2.1Jfm	involves: 129S4/SvJaeSor * C57BL/6J	MGI:2172355

Allelic Composition	Pitx2^tm2.1Jfm/Pitx2^tm2.1Jfm
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm2.1Jfm mutation (0 available); any Pitx2 mutation (39 available)

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

craniofacial

craniofacial phenotype ( J:87220 )

N	• tooth development is normal

Allelic Composition	Pitx2^tm2.1Jfm/Pitx2^tm2.1Jfm
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm2.1Jfm mutation (0 available); any Pitx2 mutation (39 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:69854 )

• about 21% of homozygotes die postnatally

cardiovascular system

cardiovascular system phenotype ( J:69854 )

N	• heart development including outflow tract morphology and atrial pectinate trabeculation are normal

respiratory system

right pulmonary isomerism ( J:69854 )

• about 83% of homozygous neonates have an extra fissure between what would be the cranial and middle lobes; however the initial branching pattern of the lung buds is similar to wild-type

digestive/alimentary system

cleft palate ( J:69854 )

abnormal digestive system development ( J:69854 )

• in 87% of homozygous neonates the midgut fails to rotate resulting in right-sided midgut mass while in the rest rotation arrest midway through the rotation; however rotation of the duodenum is normal in 88% of homozygotes

abnormal intestine morphology ( J:69854 )

• malrotation of the midgut may result in a twisted and obstructed intestine (volvulus) or bowel infarction

vision/eye

abnormal eye morphology ( J:69854 )

craniofacial

cleft palate ( J:69854 )

growth/size/body

cleft palate ( J:69854 )

right pulmonary isomerism ( J:69854 )

• about 83% of homozygous neonates have an extra fissure between what would be the cranial and middle lobes; however the initial branching pattern of the lung buds is similar to wild-type

Allelic Composition	Pitx2^tm2.1Jfm/Pitx2^tm3.1Jfm
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm2.1Jfm mutation (0 available); any Pitx2 mutation (39 available)
Pitx2^tm3.1Jfm mutation (0 available); any Pitx2 mutation (39 available)

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

craniofacial

craniofacial phenotype ( J:87220 )

N	• tooth development is normal

Allelic Composition	Pitx2^tm2Jfm/Pitx2^tm2.1Jfm
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm2.1Jfm mutation (0 available); any Pitx2 mutation (39 available)
Pitx2^tm2Jfm mutation (0 available); any Pitx2 mutation (39 available)

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

craniofacial

abnormal molar morphology ( J:87220 )

• orientation of the molars is abnormal

growth/size/body

abnormal molar morphology ( J:87220 )

• orientation of the molars is abnormal

skeleton

abnormal molar morphology ( J:87220 )

• orientation of the molars is abnormal

Allelic Composition	Pitx2^tm1Jfm/Pitx2^tm2.1Jfm
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm1Jfm mutation (1 available); any Pitx2 mutation (39 available)
Pitx2^tm2.1Jfm mutation (0 available); any Pitx2 mutation (39 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:69854 )

• embryo loss is first detected at E18.5

cardiovascular system

abnormal heart atrium morphology ( J:69854 )

• trabeculation of the right and left atria are similar, unlike in wild-type embryos where more extensive trabeculation is seen in the right atrium

respiratory system

right pulmonary isomerism ( J:69854 )

• the left-sided branching pattern is right isomerized

digestive/alimentary system

abnormal digestive system development ( J:69854 )

• in about 83% rotation of the duodenum is reversed and in the rest rotation is normal

growth/size/body

right pulmonary isomerism ( J:69854 )

• the left-sided branching pattern is right isomerized

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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