Phenotypes Associated with This Genotype

Genotype
MGI:4437276

• Allelic Composition: Prdm16^csp1/Prdm16^csp1
• Genetic Background: FVB.C-Prdm16^csp1

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

mortality/aging

neonatal lethality, complete penetrance ( J:157112 )

craniofacial

short Meckel's cartilage ( J:157112 )

• anterior shortening is evident at E14.5 and E15.5

abnormal mandible morphology ( J:157112 )

• variable hypoplasia, accompanied by abnormal curvature

• premature ossification of the early mandible

small mandible ( J:157112 )

• a disproportionate reduction in the size of the anterior body of the mandible is evident at E14.5 and E15.5

mandible hypoplasia ( J:157112 )

• variable hypoplasia, accompanied by abnormal curvature

narrow maxilla ( J:157112 )

• short and narrow maxilla

short maxilla ( J:157112 )

• short and narrow maxilla

micrognathia ( J:157112 )

abnormal nasal bone morphology ( J:157112 )

• short and narrow

short nasal bone ( J:157112 )

cleft secondary palate ( J:157112 )

• wide cleft of the secondary palate is seen in nearly all mice when on a congenic FVB/NJ background;

• Background Sensitivity: however, penetrance is decreased after 4 backcrosses onto a C57BL/6J background

abnormal palatal shelf elevation ( J:157112 )

• by E14.5-E15, a specific defect in palate shelf elevation is evident and persists to birth

• when cultured elevation occurs although fusion is variable, suggesting that the in vivo defect is a secondary effect

abnormal tongue morphology ( J:157112 )

• abnormal positioning and morphology of the tongue

abnormal tongue position ( J:157112 )

• by E14.5-E15 the tongue remains elevated within the oral cavity

abnormal snout morphology ( J:157112 )

• shortened and narrowed snout, including the nasal and maxillary bones and nasal cartilage

narrow snout ( J:157112 )

short snout ( J:157112 )

digestive/alimentary system

cleft secondary palate ( J:157112 )

• wide cleft of the secondary palate is seen in nearly all mice when on a congenic FVB/NJ background;

• Background Sensitivity: however, penetrance is decreased after 4 backcrosses onto a C57BL/6J background

abnormal palatal shelf elevation ( J:157112 )

• by E14.5-E15, a specific defect in palate shelf elevation is evident and persists to birth

• when cultured elevation occurs although fusion is variable, suggesting that the in vivo defect is a secondary effect

abnormal tongue morphology ( J:157112 )

• abnormal positioning and morphology of the tongue

abnormal tongue position ( J:157112 )

• by E14.5-E15 the tongue remains elevated within the oral cavity

abnormal sublingual gland morphology ( J:157112 )

• severe hypoplasia

abnormal sublingual duct morphology ( J:157112 )

• severe hypoplasia

abnormal submandibular duct morphology ( J:157112 )

• severe hypoplasia

submandibular gland hypoplasia ( J:157112 )

• severe

respiratory system

abnormal nasal bone morphology ( J:157112 )

• short and narrow

short nasal bone ( J:157112 )

abnormal lung morphology ( J:157112 )

• histological defects are apparent just before birth (E19.5)

small lung ( J:157112 )

• lungs appear reduced in size compared with wild-type

pulmonary hypoplasia ( J:157112 )

respiratory distress ( J:157112 )

• gasping

respiratory failure ( J:157112 )

growth/size/body

abnormal nasal bone morphology ( J:157112 )

• short and narrow

short nasal bone ( J:157112 )

cleft secondary palate ( J:157112 )

• wide cleft of the secondary palate is seen in nearly all mice when on a congenic FVB/NJ background;

• Background Sensitivity: however, penetrance is decreased after 4 backcrosses onto a C57BL/6J background

abnormal palatal shelf elevation ( J:157112 )

• by E14.5-E15, a specific defect in palate shelf elevation is evident and persists to birth

• when cultured elevation occurs although fusion is variable, suggesting that the in vivo defect is a secondary effect

abnormal tongue morphology ( J:157112 )

• abnormal positioning and morphology of the tongue

abnormal tongue position ( J:157112 )

• by E14.5-E15 the tongue remains elevated within the oral cavity

abnormal snout morphology ( J:157112 )

• shortened and narrowed snout, including the nasal and maxillary bones and nasal cartilage

narrow snout ( J:157112 )

short snout ( J:157112 )

distended abdomen ( J:157112 )

• extremely distended abdomen in which the stomach and intestines become filled with air

skeleton

short Meckel's cartilage ( J:157112 )

• anterior shortening is evident at E14.5 and E15.5

abnormal mandible morphology ( J:157112 )

• variable hypoplasia, accompanied by abnormal curvature

• premature ossification of the early mandible

small mandible ( J:157112 )

• a disproportionate reduction in the size of the anterior body of the mandible is evident at E14.5 and E15.5

mandible hypoplasia ( J:157112 )

• variable hypoplasia, accompanied by abnormal curvature

narrow maxilla ( J:157112 )

• short and narrow maxilla

short maxilla ( J:157112 )

• short and narrow maxilla

micrognathia ( J:157112 )

abnormal nasal bone morphology ( J:157112 )

• short and narrow

short nasal bone ( J:157112 )

premature bone ossification ( J:157112 )

• premature ossification of the early mandible

nervous system

abnormal choroid plexus morphology ( J:157112 )

• severe choroid plexus hypoplasia is evident in the brain ventricle

endocrine/exocrine glands

abnormal sublingual gland morphology ( J:157112 )

• severe hypoplasia

abnormal sublingual duct morphology ( J:157112 )

• severe hypoplasia

abnormal submandibular duct morphology ( J:157112 )

• severe hypoplasia

submandibular gland hypoplasia ( J:157112 )

• severe

vision/eye

retina fold ( J:157112 )

• abnormal retinal folds of variable severity are observed in the eye postnatally

cardiovascular system

abnormal heart morphology ( J:157112 )

• often exhibiting a cleft at the apex between the ventricles

abnormal heart ventricle morphology ( J:157112 )

• ventricles of the heart appear grossly abnormal and reduced in size

ventricular hypoplasia ( J:157112 )