Phenotypes associated with this allele

• Allele Symbol: Pitx2^tm1Sac
• Allele Name: targeted mutation 1, Sally A Camper
• Allele ID: MGI:1857844
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitx2^tm1Sac/Pitx2^tm1Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:3589283
hm2	Pitx2^tm1Sac/Pitx2^tm1Sac	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2170003
ht3	Pitx2^tm1Sac/Pitx2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2170004
ht4	Pitx2^tm1Sac/Pitx2^tm2Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:3589450
cn5	Pitx2^tm1Sac/Pitx2^tm2Sac Tg(Lhb-cre)1Sac/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL	MGI:3822456
cx6	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3589451
cx7	Pitx1^tm1Jdr/Pitx1^+ Pitx2^tm1Sac/Pitx2^tm1Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:3589452
cx8	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2^tm2Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:5298066
cx9	Pitx1^tm1Jdr/Pitx1^tm1Jdr Pitx2^tm1Sac/Pitx2^tm1Sac	involves: 129S1/Sv * 129X1/SvJ	MGI:3589285

Genotype
MGI:3589283

hm1

• Allelic Composition: Pitx2^tm1Sac/Pitx2^tm1Sac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:73774 )

• the number of fully differentiated hormone producing cells is decreased differentially along the dorsoventral axis

absent gonadotrophs ( J:73774 )

• the deficiency of Gnrhr, Lhb, and Fshb suggests a deficiency of gonadotropes

decreased somatotroph cell number ( J:73774 )

• expression of Gh and Ghrhr is reduced suggesting there are fewer fully differentiated somatotropes

decreased thyrotroph cell number ( J:73774 )

• expression of Tshb is reduced suggesting there are fewer fully differentiated thyrotropes

homeostasis/metabolism

decreased follicle stimulating hormone level ( J:73774 )

• at P1, expression of Fshb is nearly absent in the pituitary

decreased luteinizing hormone level ( J:73774 )

• at P1, expression of Lhb is nearly absent in the pituitary

nervous system

abnormal adenohypophysis morphology ( J:73774 )

• the number of fully differentiated hormone producing cells is decreased differentially along the dorsoventral axis

absent gonadotrophs ( J:73774 )

• the deficiency of Gnrhr, Lhb, and Fshb suggests a deficiency of gonadotropes

decreased somatotroph cell number ( J:73774 )

• expression of Gh and Ghrhr is reduced suggesting there are fewer fully differentiated somatotropes

decreased thyrotroph cell number ( J:73774 )

• expression of Tshb is reduced suggesting there are fewer fully differentiated thyrotropes

Genotype
MGI:2170003

hm2

• Allelic Composition: Pitx2^tm1Sac/Pitx2^tm1Sac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:51160 )

• embryos begin to die around E10.5 and only 1 of 41 was alive at E18.5

cardiovascular system

abnormal heart position or orientation ( J:51160 )

• heart position is biased towards the right possibly as a result of increased left lung size as initial looping is normal

abnormal interventricular septum morphology ( J:51160 )

growth/size/body

right pulmonary isomerism ( J:51160 )

vision/eye

abnormal eye muscle morphology ( J:51160 )

• eye muscles develop but are smaller than normal

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:51160 )

N • at E16.5 and E18.5 pituitary gland morphology appears normal

respiratory system

right pulmonary isomerism ( J:51160 )

muscle

abnormal eye muscle morphology ( J:51160 )

• eye muscles develop but are smaller than normal

Genotype
MGI:2170004

ht3

• Allelic Composition: Pitx2^tm1Sac/Pitx2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

vision/eye

abnormal pupil morphology ( J:51160 )

• multiple pupillary openings are seen in about 10% of heterozygotes

abnormal placement of pupils ( J:51160 )

• seen in about 10% of heterozygotes

anisocoria ( J:51160 )

• seen in about 10% of heterozygotes

cataract ( J:51160 )

• clouded lenses are seen in about 10% of heterozygotes

microphthalmia ( J:51160 )

• in 2 of about 30 heterozygotes small eyes are seen

craniofacial

misaligned incisors ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

malocclusion ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

skeleton

misaligned incisors ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

malocclusion ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

growth/size/body

misaligned incisors ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

malocclusion ( J:51160 )

• in 2 of about 30 heterozygotes mal-occluded incisors are seen

decreased body size ( J:51160 )

• in 2 of about 30 heterozygotes body size is reduced to 1/3 that of wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Axenfeld-Rieger syndrome type 1		DOID:0110120	OMIM:180500	J:51160

Genotype
MGI:3589450

ht4

• Allelic Composition: Pitx2^tm1Sac/Pitx2^tm2Sac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

endocrine/exocrine glands

small Rathke's pouch ( J:73774 )

• an intermediate reduction in the size of Rathke's pouch is seen in compound heterozygotes compared to mice homozygous for Pitx2^tm2Sac; however the infundibulum appears normal

nervous system

small Rathke's pouch ( J:73774 )

• an intermediate reduction in the size of Rathke's pouch is seen in compound heterozygotes compared to mice homozygous for Pitx2^tm2Sac; however the infundibulum appears normal

Genotype
MGI:3822456

cn5

• Allelic Composition: Pitx2^tm1Sac/Pitx2^tm2Sac; Tg(Lhb-cre)1Sac/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

reproductive system

reproductive system phenotype ( J:142726 )

N • unlike Pitx2 null mice, mice exhibit normal gonadal development, puberty and fertility

growth/size/body

growth/size/body region phenotype ( J:142726 )

N • unlike Pitx2 null mice, growth rates and weights are normal

Genotype
MGI:3589451

cx6

• Allelic Composition: Pitx1^tm1Jdr/Pitx1^tm1Jdr; Pitx2^tm1Sac/Pitx2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

endocrine/exocrine glands

small Rathke's pouch ( J:73774 )

• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote

nervous system

small Rathke's pouch ( J:73774 )

• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote

Genotype
MGI:3589452

cx7

• Allelic Composition: Pitx1^tm1Jdr/Pitx1⁺; Pitx2^tm1Sac/Pitx2^tm1Sac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

endocrine/exocrine glands

small Rathke's pouch ( J:73774 )

• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote

nervous system

small Rathke's pouch ( J:73774 )

• an intermediate reduction in the size of Rathke's pouch is seen compared to the double homozygote

Genotype
MGI:5298066

cx8

• Allelic Composition: Pitx1^tm1Jdr/Pitx1^tm1Jdr; Pitx2^tm1Sac/Pitx2^tm2Sac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

embryo

small limb buds ( J:80020 )

• both stylopod and autopod severely affected

limbs/digits/tail

small limb buds ( J:80020 )

• both stylopod and autopod severely affected

Genotype
MGI:3589285

cx9

• Allelic Composition: Pitx1^tm1Jdr/Pitx1^tm1Jdr; Pitx2^tm1Sac/Pitx2^tm1Sac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

limbs/digits/tail

small limb buds ( J:80020 )

• in about 60% of comparisons limb bud reduction is greater in double homozygotes than in single homozygotes

• in about 50% of mutants the reduction in limb bud size is greater on the right side than on the left

• limb bud reduction is the result of narrowing of the limb bud so that it is only about 2 somites in length rather than 3.5/4 somites as in wild-type embryos apparently the result of a loss of anterior bud mesenchyme

oligodactyly ( J:80020 )

• digit one is lost; however, the autopod is otherwise normal

abnormal hindlimb morphology ( J:80020 )

• progressive loss of hindlimb skeletal elements is seen in a gene dosage dependent manner with loss of the right digit 1 being most sensitive followed by the right tibia then right femur, a similar pattern is seen on the left side

absent femur ( J:80020 )

• the right and left femurs are absent

abnormal fibula morphology ( J:80020 )

• identification of the fibula is based on contact with the calcaneus

absent tibia ( J:80020 )

skeleton

absent femur ( J:80020 )

• the right and left femurs are absent

abnormal fibula morphology ( J:80020 )

• identification of the fibula is based on contact with the calcaneus

absent tibia ( J:80020 )

endocrine/exocrine glands

abnormal Rathke's pouch development ( J:73774 )

• Rathke's pouch fails to expand normally at E12.5; however pituitary size is normal in either single homozygote

nervous system

abnormal Rathke's pouch development ( J:73774 )

• Rathke's pouch fails to expand normally at E12.5; however pituitary size is normal in either single homozygote

embryo

small limb buds ( J:80020 )

• in about 60% of comparisons limb bud reduction is greater in double homozygotes than in single homozygotes

• in about 50% of mutants the reduction in limb bud size is greater on the right side than on the left

• limb bud reduction is the result of narrowing of the limb bud so that it is only about 2 somites in length rather than 3.5/4 somites as in wild-type embryos apparently the result of a loss of anterior bud mesenchyme