Phenotypes Associated with This Genotype

Genotype
MGI:6441946

• Allelic Composition: Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl; Tg(Nes-cre)1Atp/0
• Genetic Background: involves: 129 * FVB/N

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:138715 )

• fetuses fail to survive beyond E15

craniofacial

maxillary prominence hypoplasia ( J:138715 )

• starting at E10, the maxillary process is hypoplastic as a result of dramatic apoptosis occurring at the medial border of the maxillary process bilaterally around E9.5

abnormal medial nasal prominence morphology ( J:138715 )

• TUNEL assays showed increased apoptosis in the mesenchyme of the anterior aspect of the medial nasal process (MNP)

abnormal palatal shelf morphology ( J:138715 )

• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)

palatal shelf hypoplasia ( J:138715 )

• at E13.5, palatal shelves are hypoplastic

cleft upper lip ( J:138715 )

• at E13.5, embryos exhibit unilateral, or occasionally, bilateral cleft lip extending into the nostril; overall penetrance of cleft lip is 64%

• TUNEL assays showed decreased apoptosis in the epithelial seam between the medial nasal process (MNP) and the maxillary process (MAX) at E11

• at E11, the contact between the medial (MNP) and lateral nasal processes (LNP) is greatly reduced with no apparent involvement of the MAX, resulting in a very small epithelial seam

• cleft lip may be caused by inadequate contact between the MNP and MAX, due to morphological differences, exacerbated by reduced apoptosis and seam persistence

bilateral cleft upper lip ( J:138715 )

• occasionally at E13.5

unilateral cleft upper lip ( J:138715 )

• frequently at E13.5

digestive/alimentary system

abnormal palatal shelf morphology ( J:138715 )

• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)

palatal shelf hypoplasia ( J:138715 )

• at E13.5, palatal shelves are hypoplastic

growth/size/body

abnormal palatal shelf morphology ( J:138715 )

• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)

palatal shelf hypoplasia ( J:138715 )

• at E13.5, palatal shelves are hypoplastic

cleft upper lip ( J:138715 )

• at E13.5, embryos exhibit unilateral, or occasionally, bilateral cleft lip extending into the nostril; overall penetrance of cleft lip is 64%

• TUNEL assays showed decreased apoptosis in the epithelial seam between the medial nasal process (MNP) and the maxillary process (MAX) at E11

• at E11, the contact between the medial (MNP) and lateral nasal processes (LNP) is greatly reduced with no apparent involvement of the MAX, resulting in a very small epithelial seam

• cleft lip may be caused by inadequate contact between the MNP and MAX, due to morphological differences, exacerbated by reduced apoptosis and seam persistence

bilateral cleft upper lip ( J:138715 )

• occasionally at E13.5

unilateral cleft upper lip ( J:138715 )

• frequently at E13.5