Phenotypes associated with this allele

• Allele Symbol: Pitx1^tm1Rsd
• Allele Name: targeted mutation 1, Michael G Rosenfeld
• Allele ID: MGI:1934200
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitx1^tm1Rsd/Pitx1^tm1Rsd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3847350
ht2	Pitx1^tm1Rsd/Pitx1^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5294943

Genotype
MGI:3847350

hm1

• Allelic Composition: Pitx1^tm1Rsd/Pitx1^tm1Rsd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:53310 )

• mice die immediately at or shortly after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:53310 )

• some mice die at E11.5

limbs/digits/tail

brachydactyly ( J:53310 )

• on the hindlimb

abnormal tarsal bone morphology ( J:53310 )

• mice exhibit an additional proximal tarsal element analogous to the pisiform found in the forelimb carpus unlike in wild-type mice

• the cacaneus is altered compared to in wild-type mice

• however, the proximal tarsus maintains tarsal-like morphology

abnormal hindlimb morphology ( J:53310 )

• Zucker nodes are lost unlike in wild-type mice

abnormal femur morphology ( J:53310 )

• altered length, width, and overall structure

abnormal fibula morphology ( J:53310 )

• mice exhibit altered length, width, and overall structure of the fibula compared with wild-type mice

• the tibia and fibula are similar to the radius and ulna unlike in wild-type mice

abnormal tibia morphology ( J:53310 )

• mice exhibit altered length, width, and overall structure of the tibia compared with wild-type mice

• alterations in the cnemial crest of the tibia alters angles of proximal and distal articulation of the fibula compared to in wild-type mice

• the tibia and fibula are similar to the radius and ulna unlike in wild-type mice

absent patella ( J:53310 )

short hindlimb ( J:53310 )

• hindlimbs are shorter than normal

skeleton

small mandible ( J:53310 )

short mandible ( J:53310 )

• short distal mandible

abnormal tarsal bone morphology ( J:53310 )

• mice exhibit an additional proximal tarsal element analogous to the pisiform found in the forelimb carpus unlike in wild-type mice

• the cacaneus is altered compared to in wild-type mice

• however, the proximal tarsus maintains tarsal-like morphology

abnormal femur morphology ( J:53310 )

• altered length, width, and overall structure

abnormal fibula morphology ( J:53310 )

• mice exhibit altered length, width, and overall structure of the fibula compared with wild-type mice

• the tibia and fibula are similar to the radius and ulna unlike in wild-type mice

abnormal tibia morphology ( J:53310 )

• mice exhibit altered length, width, and overall structure of the tibia compared with wild-type mice

• alterations in the cnemial crest of the tibia alters angles of proximal and distal articulation of the fibula compared to in wild-type mice

• the tibia and fibula are similar to the radius and ulna unlike in wild-type mice

absent patella ( J:53310 )

abnormal pelvic girdle bone morphology ( J:53310 )

• reduced size

endocrine/exocrine glands

absent submandibular gland ( J:53310 )

• ventral sublingual mesenchyme is hypoplastic and the submandibular gland does not form unlike in wild-type mice

abnormal pituitary gland morphology ( J:53310 )

• E15.5, trophic hormone expression indicates that the ventral cell type populations are decreased compared to in wild-type mice

decreased gonadotroph cell number ( J:53310 )

decreased thyrotroph cell number ( J:53310 )

nervous system

abnormal pituitary gland morphology ( J:53310 )

• E15.5, trophic hormone expression indicates that the ventral cell type populations are decreased compared to in wild-type mice

decreased gonadotroph cell number ( J:53310 )

decreased thyrotroph cell number ( J:53310 )

digestive/alimentary system

cleft palate ( J:53310 )

• the palate fails to close unlike in wild-type mice

short tongue ( J:53310 )

• shortened tongue

absent submandibular gland ( J:53310 )

• ventral sublingual mesenchyme is hypoplastic and the submandibular gland does not form unlike in wild-type mice

craniofacial

small mandible ( J:53310 )

short mandible ( J:53310 )

• short distal mandible

cleft palate ( J:53310 )

• the palate fails to close unlike in wild-type mice

short tongue ( J:53310 )

• shortened tongue

growth/size/body

cleft palate ( J:53310 )

• the palate fails to close unlike in wild-type mice

short tongue ( J:53310 )

• shortened tongue

Genotype
MGI:5294943

ht2

• Allelic Composition: Pitx1^tm1Rsd/Pitx1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

limbs/digits/tail

clubfoot ( J:175799 )

• 20 of 225 mice exhibit clubfoot, indicating an 8.9% penetrance of clubfoot

• clubfoot is unilateral in 16 of 20 affected mutants, with right and left limbs equally affected

• higher incidence of clubfoot is seen in females compared to males

cardiovascular system

abnormal artery morphology ( J:175799 )

• peroneal artery hypoplasia occurs in the clubfoot limb

growth/size/body

abnormal postnatal growth ( J:175799 )

• mutants exhibit overall growth impairment

adipose tissue

abnormal adipose tissue amount ( J:175799 )

• fat volume of the clubfoot limb is increased compared to unaffected limb

muscle

muscle hypoplasia ( J:175799 )

• muscle hypoplasia in the clubfoot limb

skeleton

decreased bone volume ( J:175799 )

• tibial and fibular bone volumes are reduced in the clubfoot limb

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
clubfoot		DOID:11836	OMIM:119800	J:175799