Phenotypes associated with this allele

• Allele Symbol: Tg(KRT14-cre)52Smr
• Allele Name: transgene insertion 52, Sarah E Millar
• Allele ID: MGI:3046576
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm Tg(KRT14-cre)52Smr/0	involves: 129S6/SvEvTac * C57BL/6J * SJL/J	MGI:5300942
cn2	Bmpr1a^tm2Bhr/Bmpr1a^tm2Bhr Tg(KRT14-cre)52Smr/0	involves: 129S7/SvEvBrd * C57BL/6J * SJL/J	MGI:3046635
cn3	Dicer1^tm1Smr/Dicer1^tm1Smr Tg(KRT14-cre)52Smr/0	involves: 129S7/SvEvBrd * C57BL/6J * SJL/J	MGI:3641079

Genotype
MGI:5300942

cn1

• 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

Genotype
MGI:3046635

cn2

• Allelic Composition: Bmpr1a^tm2Bhr/Bmpr1a^tm2Bhr; Tg(KRT14-cre)52Smr/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL/J

skeleton

absent teeth ( J:91054 )

mortality/aging

postnatal lethality, complete penetrance ( J:91054 )

• die within first 4 days

behavior/neurological

abnormal suckling behavior ( J:91054 )

• difficulty suckling

craniofacial

abnormal mouth morphology ( J:91054 )

• oral abnormalities resulting from defective tooth development

absent teeth ( J:91054 )

growth/size/body

abnormal mouth morphology ( J:91054 )

• oral abnormalities resulting from defective tooth development

absent teeth ( J:91054 )

decreased body size ( J:91054 )

• severely runted

integument

abnormal hair growth ( J:91054 )

alopecia ( J:91054 )

• lacked external hair

abnormal hair shaft morphology ( J:91054 )

• shafts usually fail to form in follicles

abnormal hair follicle morphology ( J:91054 )

• wavy

abnormal hair follicle dermal papilla morphology ( J:91054 )

• misshapen and expanded dermal papillae

abnormal hair follicle orientation ( J:91054 )

• misangled

• not as deep into the dermis

small hair follicles ( J:91054 )

Genotype
MGI:3641079

cn3

• Allelic Composition: Dicer1^tm1Smr/Dicer1^tm1Smr; Tg(KRT14-cre)52Smr/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL/J

mortality/aging

premature death ( J:110268 )

• less affected mice survive up to 2.5 months

postnatal lethality, incomplete penetrance ( J:110268 )

• severely affected mutants die within a few days of birth

growth/size/body

postnatal growth retardation ( J:110268 )

• newborn mice appear normal but by P7 are stunted with respect to growth compared to wild-type lettermates

integument

delayed hair appearance ( J:110268 )

• at P7 mice lack external hair growth

abnormal hair shaft morphology ( J:110268 )

• hair shaft structures are underdeveloped, and hair shafts do not extend beyond the level of the epidermis

small hair follicle bulb ( J:110268 )

• the hair bulbs are smaller than those in controls

abnormal hair follicle development ( J:110268 )

• in newborn skin, follicle growth is stunted

• secondary hair follicles fail to extend into the dermis

abnormal hair follicle orientation ( J:110268 )

• when viewed from the dermal aspect, hair follicles are misangled and fail to display the normal anterior-posterior polarity seen in control skin

• by P7, mutant hair follicles are misangled and wavy

hair follicle degeneration ( J:110268 )

• by P49 hair follicles have degenerated in large stretches of mutant skin and have been replaced by cyst structures or clumps of disorganized epithelial cells

decreased hair follicle cell proliferation ( J:110268 )

• hair follicle proliferation is reduced in newborns

abnormal epidermal layer morphology ( J:110268 )

• the skin of mutants displays evaginating dermal cells which are engulfed by epidermal cells

• at P7 epidermal proliferation is increased compared with controls

• the epidermis is expanded compared to controls at P7 and is that way at P49

thick epidermis ( J:110268 )

• at P49 and P63, mutant epidermis is thickened with increased numbers of basal and suprabasal layers