Phenotypes Associated with This Genotype

Genotype
MGI:5300942

• Allelic Composition: Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm; Tg(KRT14-cre)52Smr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * SJL/J

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

behavior/neurological

absent gastric milk in neonates ( J:112634 )

• animals lack milk in their stomachs

mortality/aging

neonatal lethality ( J:112634 )

• animals die shortly after birth

craniofacial

abnormal palate development ( J:112634 )

• BrdU incorporation analysis indicated that there was no defect of cell proliferation in the palatal mesenchyme of the mutant mice

abnormal primary palate development ( J:112634 )

• the primary palate failed to extend backward and to fuse with the secondary palatal shelves; instead, elevated epithelial cell proliferation activity resulted in the formation of an epithelial tongue, which prevented the fusion between primary and secondary palate

abnormal palatal shelf morphology ( J:112634 )

• on the secondary palatal shelves, a shining transparent strip was located on the posterior part of midline

abnormal palatal shelf fusion at midline ( J:112634 )

• a persistent midline epithelial seam was located in the anterior part of the secondary palate and formed a cyst

• an epithelial bridge separated palatine bone and prevented fusion in the midline

• at E14.5, apoptotic cells were found in the medial edge seam at anterior, middle and posterior region of the developing palate, particularly in the nasal and oral epithelial triangles in wild-type samples, but, no apoptotic positive cells were detected in the medial edge seam in the anterior, middle and posterior region of palate in mutant samples

• at E14.5, medial edge epithelial cells in the mutant palate still maintained the ability to proliferate throughout the entire palate, as measured by BrdU incorporation, and prevented palatal fusion in the middle and posterior part of the mutant palate sample, while there was no proliferation activity in the MEE of the wild-type sample

abnormal hard palate morphology ( J:112634 )

• a transversal section showed that the muscle attachments were misdirected anteriorly and attached onto the posterior portion of the bony palate, a typical malformation of the submucous cleft

abnormal soft palate morphology ( J:208431 )

• cell proliferation is reduced in the soft palate at E14.5 and E15.5, however apoptosis is unaffected

abnormal soft palate muscle morphology ( J:208431 )

• total volume of muscle in the soft palate is reduced at E15.5

small levator veli palatini muscle ( J:208431 )

• levator veli palatini muscle is reduced in volume and is smaller in newborns

small tensor veli palatini muscle ( J:208431 )

• tensor veli palatini is reduced in volume and is smaller in newborns

cleft secondary palate ( J:112634 )

• a complete cleft was manifested in the posterior part of the soft palate

cleft soft palate ( J:208431 )

• 100% of mice develop cleft soft palate, with cleft seen from E15.5 onwards

abnormal nasal septum morphology ( J:112634 )

• the nasal septum failed to fuse with the palatal shelves

digestive/alimentary system

abnormal palate development ( J:112634 )

• BrdU incorporation analysis indicated that there was no defect of cell proliferation in the palatal mesenchyme of the mutant mice

abnormal primary palate development ( J:112634 )

• the primary palate failed to extend backward and to fuse with the secondary palatal shelves; instead, elevated epithelial cell proliferation activity resulted in the formation of an epithelial tongue, which prevented the fusion between primary and secondary palate

abnormal palatal shelf morphology ( J:112634 )

• on the secondary palatal shelves, a shining transparent strip was located on the posterior part of midline

abnormal palatal shelf fusion at midline ( J:112634 )

• a persistent midline epithelial seam was located in the anterior part of the secondary palate and formed a cyst

• an epithelial bridge separated palatine bone and prevented fusion in the midline

• at E14.5, apoptotic cells were found in the medial edge seam at anterior, middle and posterior region of the developing palate, particularly in the nasal and oral epithelial triangles in wild-type samples, but, no apoptotic positive cells were detected in the medial edge seam in the anterior, middle and posterior region of palate in mutant samples

• at E14.5, medial edge epithelial cells in the mutant palate still maintained the ability to proliferate throughout the entire palate, as measured by BrdU incorporation, and prevented palatal fusion in the middle and posterior part of the mutant palate sample, while there was no proliferation activity in the MEE of the wild-type sample

abnormal hard palate morphology ( J:112634 )

• a transversal section showed that the muscle attachments were misdirected anteriorly and attached onto the posterior portion of the bony palate, a typical malformation of the submucous cleft

abnormal soft palate morphology ( J:208431 )

• cell proliferation is reduced in the soft palate at E14.5 and E15.5, however apoptosis is unaffected

abnormal soft palate muscle morphology ( J:208431 )

• total volume of muscle in the soft palate is reduced at E15.5

small levator veli palatini muscle ( J:208431 )

• levator veli palatini muscle is reduced in volume and is smaller in newborns

small tensor veli palatini muscle ( J:208431 )

• tensor veli palatini is reduced in volume and is smaller in newborns

cleft secondary palate ( J:112634 )

• a complete cleft was manifested in the posterior part of the soft palate

cleft soft palate ( J:208431 )

• 100% of mice develop cleft soft palate, with cleft seen from E15.5 onwards

respiratory system

abnormal nasal septum morphology ( J:112634 )

• the nasal septum failed to fuse with the palatal shelves

muscle

abnormal soft palate muscle morphology ( J:208431 )

• total volume of muscle in the soft palate is reduced at E15.5

small levator veli palatini muscle ( J:208431 )

• levator veli palatini muscle is reduced in volume and is smaller in newborns

small tensor veli palatini muscle ( J:208431 )

• tensor veli palatini is reduced in volume and is smaller in newborns

abnormal skeletal muscle fiber morphology ( J:208431 )

• muscle fibers are aligned in the anterior-posterior direction in the soft palate in contrast to the lateral-medial alignment in controls

• muscles are attached to the posterior border of the hard palate

• myofibers in the soft palate are thin and disorganized, appearing wavy and lacking striation, and are decreased in diameter

centrally nucleated skeletal muscle fibers ( J:208431 )

• percentage of centrally placed nuclei in soft palate myofibers is increased

growth/size/body

abnormal palate development ( J:112634 )

• BrdU incorporation analysis indicated that there was no defect of cell proliferation in the palatal mesenchyme of the mutant mice

abnormal primary palate development ( J:112634 )

• the primary palate failed to extend backward and to fuse with the secondary palatal shelves; instead, elevated epithelial cell proliferation activity resulted in the formation of an epithelial tongue, which prevented the fusion between primary and secondary palate

abnormal palatal shelf morphology ( J:112634 )

• on the secondary palatal shelves, a shining transparent strip was located on the posterior part of midline

abnormal palatal shelf fusion at midline ( J:112634 )

• a persistent midline epithelial seam was located in the anterior part of the secondary palate and formed a cyst

• an epithelial bridge separated palatine bone and prevented fusion in the midline

• at E14.5, apoptotic cells were found in the medial edge seam at anterior, middle and posterior region of the developing palate, particularly in the nasal and oral epithelial triangles in wild-type samples, but, no apoptotic positive cells were detected in the medial edge seam in the anterior, middle and posterior region of palate in mutant samples

• at E14.5, medial edge epithelial cells in the mutant palate still maintained the ability to proliferate throughout the entire palate, as measured by BrdU incorporation, and prevented palatal fusion in the middle and posterior part of the mutant palate sample, while there was no proliferation activity in the MEE of the wild-type sample

abnormal hard palate morphology ( J:112634 )

• a transversal section showed that the muscle attachments were misdirected anteriorly and attached onto the posterior portion of the bony palate, a typical malformation of the submucous cleft

abnormal soft palate morphology ( J:208431 )

• cell proliferation is reduced in the soft palate at E14.5 and E15.5, however apoptosis is unaffected

abnormal soft palate muscle morphology ( J:208431 )

• total volume of muscle in the soft palate is reduced at E15.5

small levator veli palatini muscle ( J:208431 )

• levator veli palatini muscle is reduced in volume and is smaller in newborns

small tensor veli palatini muscle ( J:208431 )

• tensor veli palatini is reduced in volume and is smaller in newborns

cleft secondary palate ( J:112634 )

• a complete cleft was manifested in the posterior part of the soft palate

cleft soft palate ( J:208431 )

• 100% of mice develop cleft soft palate, with cleft seen from E15.5 onwards

abnormal nasal septum morphology ( J:112634 )

• the nasal septum failed to fuse with the palatal shelves

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft soft palate		DOID:0110214	OMIM:119570	J:208431