Phenotypes associated with this allele

• Allele Symbol: Trps1^tm1.1Shiv
• Allele Name: targeted mutation 1.1, Ramesh A Shivdasani
• Allele ID: MGI:2446570
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trps1^tm1.1Shiv/Trps1^tm1.1Shiv	either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)	MGI:3723221
hm2	Trps1^tm1.1Shiv/Trps1^tm1.1Shiv	either: (involves: 129/SvEv * 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6J)	MGI:7367110
ht3	Trps1^tm1.1Shiv/Trps1^+	either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)	MGI:3723222

Genotype
MGI:3723221

hm1

• Allelic Composition: Trps1^tm1.1Shiv/Trps1^tm1.1Shiv
• Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)

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

mortality/aging

neonatal lethality, complete penetrance ( J:80615 )

• die within 6 hours of birth when they exhibit progressively labored respiratory effort and cyanosis and die of respiratory failure

behavior/neurological

hunched posture ( J:80615 )

respiratory system

abnormal pulmonary alveolus morphology ( J:80615 )

• lungs show reduced air spaces

abnormal pulmonary alveolus epithelial cell morphology ( J:80615 )

• glycogen deposits are retained in the newborn respiratory epithelium

atelectasis ( J:80615 )

• lung atelectasis; lung saccules fail to expand properly despite the presence of alveolar surfactant

thick pulmonary interalveolar septum ( J:80615 )

respiratory failure ( J:80615 )

skeleton

micrognathia ( J:80615 )

• micrognathia in the form of a small, recessed chin in neonates

abnormal rib morphology ( J:80615 )

• ribs are abnormally curved

thin ribs ( J:80615 )

abnormal thoracic cage shape ( J:80615 )

• rib cage curves inward at the base

small thoracic cage ( J:80615 )

• rib cage is reduced in size

scoliosis ( J:80615 )

delayed endochondral bone ossification ( J:80615 )

• endochondral ossification is delayed in the ribs and throughout the vertebral column

craniofacial

micrognathia ( J:80615 )

• micrognathia in the form of a small, recessed chin in neonates

integument

decreased hair follicle number ( J:80615 )

• the average number of hair follicles present per unit length of dorsal skin surface is reduced by almost 50% in newborns

• absence of ventral, nonsensory hairs along the mandible in neonates

absent vibrissae ( J:80615 )

• whiskers are absent throughout late gestation, except for scattered atretic follicles

Genotype
MGI:7367110

hm2

• Allelic Composition: Trps1^tm1.1Shiv/Trps1^tm1.1Shiv
• Genetic Background: either: (involves: 129/SvEv * 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6J)

mortality/aging

neonatal lethality, complete penetrance ( J:288954 )

craniofacial

abnormal basicranium morphology ( J:288954 )

• at E18.5, the anterior cranial base is hypoplastic

• however, the basioccipital and cranial vault bones are relatively normal

small basisphenoid bone ( J:288954 )

• at E18.5, the basisphenoid is smaller than in wild-type controls

abnormal cranial cartilage development ( J:288954 )

• at E18.5, less cartilage is detected in the mandibular coronoid, condylar, and angular processes

• however, Meckels cartilage is present

absent presphenoid bone ( J:288954 )

• at E18.5, the presphenoid bone is absent

zygomatic arch hypoplasia ( J:288954 )

• at E18.5, the zygomatic arch is less developed than in wild-type controls

delayed tooth eruption ( J:288954 )

• however, clearly demarcated molar crypts are present

• at E18.5, mandibular incisors have not erupted in the mandible

abnormal mandibular angle morphology ( J:288954 )

• at E18.5, the angular cartilage is hypoplastic with reduced mineralization

mandibular condyloid process hypoplasia ( J:288954 )

• at E18.5, the condylar cartilage is hypoplastic

mandibular coronoid process hypoplasia ( J:288954 )

• at E18.5, the coronoid process is hypoplastic

short mandible ( J:288954 )

• at E18.5, the mandible is significantly shorter than in wild-type controls

maxillary zygomatic process hypoplasia ( J:288954 )

• at E18.5, the zygomatic process of the maxillary bone is hypoplastic

vomer bone hypoplasia ( J:288954 )

• at E18.5, the vomer bone is underdeveloped

abnormal secondary palate development ( J:288954 )

• at E14.5, expression of several proteins involved in palatal shelf adhesion/fusion, including chondroitin sulfate proteoglycan, TGFB3, TWIST1, and beta-catenin, is absent in the palatal shelf epithelium

• however, mesenchymal expression of chondroitin sulfate proteoglycan expression is unaffected and no differences in proliferation or apoptosis are detected in the palatal shelves at E14.5

palatal shelves fail to meet at midline ( J:288954 )

• at E18.5, palatal shelves remain widely separated

• ex vivo, palatal shelves isolated from E13.5 embryos remain in contact with each other but fail to initiate the fusion process after 48 h of organ culture

cleft palate ( J:288954 )

• at E18.5, cleft palate is evident in all mice examined

delayed palatal shelf elevation ( J:288954 )

• at E14.5, palatal shelves are still oriented vertically, whereas wild-type palatal shelves have already elevated and begun to approximate each other

• however, palatal shelves are elevated above the tongue by E18.5

abnormal nose morphology ( J:288954 )

• at E18.5, mean nasal angle is significantly steeper than in wild-type controls

• however, nasal cartilage morphology is relatively normal

abnormal nasal septum morphology ( J:288954 )

• at E14.5, expression of chondroitin sulfate proteoglycan is absent in the nasal septum, unlike in wild-type controls

downturned snout ( J:288954 )

• at E18.5, the nose is described as downward-sloping

short snout ( J:288954 )

• at E18.5, mean nasal length is significantly shorter than in wild-type controls

• however, mean head length is relatively normal

skeleton

abnormal basicranium morphology ( J:288954 )

• at E18.5, the anterior cranial base is hypoplastic

• however, the basioccipital and cranial vault bones are relatively normal

small basisphenoid bone ( J:288954 )

• at E18.5, the basisphenoid is smaller than in wild-type controls

abnormal cranial cartilage development ( J:288954 )

• at E18.5, less cartilage is detected in the mandibular coronoid, condylar, and angular processes

• however, Meckels cartilage is present

absent presphenoid bone ( J:288954 )

• at E18.5, the presphenoid bone is absent

zygomatic arch hypoplasia ( J:288954 )

• at E18.5, the zygomatic arch is less developed than in wild-type controls

delayed tooth eruption ( J:288954 )

• at E18.5, mandibular incisors have not erupted in the mandible

• however, clearly demarcated molar crypts are present

abnormal mandibular angle morphology ( J:288954 )

• at E18.5, the angular cartilage is hypoplastic with reduced mineralization

mandibular condyloid process hypoplasia ( J:288954 )

• at E18.5, the condylar cartilage is hypoplastic

mandibular coronoid process hypoplasia ( J:288954 )

• at E18.5, the coronoid process is hypoplastic

short mandible ( J:288954 )

• at E18.5, the mandible is significantly shorter than in wild-type controls

maxillary zygomatic process hypoplasia ( J:288954 )

• at E18.5, the zygomatic process of the maxillary bone is hypoplastic

vomer bone hypoplasia ( J:288954 )

• at E18.5, the vomer bone is underdeveloped

abnormal endochondral bone ossification ( J:288954 )

• at E18.5, reduced mineralized regions as well as less cartilage are observed in the mandibular coronoid, condylar, and angular processes

respiratory system

abnormal nose morphology ( J:288954 )

• at E18.5, mean nasal angle is significantly steeper than in wild-type controls

• however, nasal cartilage morphology is relatively normal

abnormal nasal septum morphology ( J:288954 )

• at E14.5, expression of chondroitin sulfate proteoglycan is absent in the nasal septum, unlike in wild-type controls

digestive/alimentary system

abnormal secondary palate development ( J:288954 )

• at E14.5, expression of several proteins involved in palatal shelf adhesion/fusion, including chondroitin sulfate proteoglycan, TGFB3, TWIST1, and beta-catenin, is absent in the palatal shelf epithelium

• however, mesenchymal expression of chondroitin sulfate proteoglycan expression is unaffected and no differences in proliferation or apoptosis are detected in the palatal shelves at E14.5

palatal shelves fail to meet at midline ( J:288954 )

• at E18.5, palatal shelves remain widely separated

• ex vivo, palatal shelves isolated from E13.5 embryos remain in contact with each other but fail to initiate the fusion process after 48 h of organ culture

cleft palate ( J:288954 )

• at E18.5, cleft palate is evident in all mice examined

delayed palatal shelf elevation ( J:288954 )

• at E14.5, palatal shelves are still oriented vertically, whereas wild-type palatal shelves have already elevated and begun to approximate each other

• however, palatal shelves are elevated above the tongue by E18.5

growth/size/body

delayed tooth eruption ( J:288954 )

• at E18.5, mandibular incisors have not erupted in the mandible

• however, clearly demarcated molar crypts are present

abnormal secondary palate development ( J:288954 )

• at E14.5, expression of several proteins involved in palatal shelf adhesion/fusion, including chondroitin sulfate proteoglycan, TGFB3, TWIST1, and beta-catenin, is absent in the palatal shelf epithelium

• however, mesenchymal expression of chondroitin sulfate proteoglycan expression is unaffected and no differences in proliferation or apoptosis are detected in the palatal shelves at E14.5

palatal shelves fail to meet at midline ( J:288954 )

• at E18.5, palatal shelves remain widely separated

• ex vivo, palatal shelves isolated from E13.5 embryos remain in contact with each other but fail to initiate the fusion process after 48 h of organ culture

cleft palate ( J:288954 )

• at E18.5, cleft palate is evident in all mice examined

delayed palatal shelf elevation ( J:288954 )

• at E14.5, palatal shelves are still oriented vertically, whereas wild-type palatal shelves have already elevated and begun to approximate each other

• however, palatal shelves are elevated above the tongue by E18.5

abnormal nose morphology ( J:288954 )

• at E18.5, mean nasal angle is significantly steeper than in wild-type controls

• however, nasal cartilage morphology is relatively normal

abnormal nasal septum morphology ( J:288954 )

• at E14.5, expression of chondroitin sulfate proteoglycan is absent in the nasal septum, unlike in wild-type controls

downturned snout ( J:288954 )

• at E18.5, the nose is described as downward-sloping

short snout ( J:288954 )

• at E18.5, mean nasal length is significantly shorter than in wild-type controls

• however, mean head length is relatively normal

Genotype
MGI:3723222

ht3

• Allelic Composition: Trps1^tm1.1Shiv/Trps1⁺
• Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)

craniofacial

arched palate ( J:80615 )

• presence of an abnormally arched (but not cleft) palate in adults

skeleton

kyphoscoliosis ( J:80615 )

• seen by 3 months of age

decreased bone mineral density ( J:80615 )

• femurs show reductions in whole and especially trabecular bone volume density

digestive/alimentary system

arched palate ( J:80615 )

• presence of an abnormally arched (but not cleft) palate in adults

integument

decreased hair follicle number ( J:80615 )

• fewer numbers of hair follicles present per unit length of dorsal skin surface in neonates, however, defects in quantitative or qualitative aspects of the pelage are not evident in adults

growth/size/body

arched palate ( J:80615 )

• presence of an abnormally arched (but not cleft) palate in adults

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
trichorhinophalangeal syndrome type I		DOID:14743	OMIM:190350	J:80615