Phenotypes Associated with This Genotype

Genotype
MGI:7437965

• Allelic Composition: E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺; Snrpb^em1Lajm/Snrpb⁺
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6J * CD1

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:326544 )

• fewer than expected found at E14.5 and E17.5

neonatal lethality, complete penetrance ( J:326544 )

• no heterozygotes were found at P1 or P1 but 5 were found at P0

skeleton

abnormal cranium morphology ( J:326544 )

abnormal metopic suture morphology ( J:326544 )

• heterotopic ossification in 1 pup at P0

basisphenoid bone hypoplasia ( J:326544 )

• in some embryos

• hypoplastic and asymmetric in 3 pups at P0

Meckel's cartilage hypoplasia ( J:326544 )

• at E14.5 and E17.5

frontal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

interparietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

parietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

absent alisphenoid bone ( J:326544 )

• at E14.5 and E17.5

abnormal temporal bone morphology ( J:326544 )

• absent at E14.5 and E17.5

small temporal bone squamous part ( J:326544 )

• in 3 pups

absent zygomatic arch ( J:326544 )

• fails to form in some embryos

absent hyoid bone ( J:326544 )

• hypoplastic or absent

hyoid bone hypoplasia ( J:326544 )

• hypoplastic or absent

abnormal jaw morphology ( J:326544 )

• distal ends are abnormally shaped

abnormal mandible morphology ( J:326544 )

• cleft in the mandible in 25% of embryos at E12.5

• mandible is bilaterally smaller and asymmetrical in some embryos at E14.5 and E17.5

• proximal elements are absent

absent mandibular angle ( J:326544 )

absent mandibular condyloid process ( J:326544 )

absent mandibular coronoid process ( J:326544 )

mandible hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

abnormal premaxilla morphology ( J:326544 )

• clefts of the pre-maxillary cartilage and bone

• at P0 a single pup had a curved but closed premaxilla

maxilla hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

domed cranium ( J:326544 )

• dome-shaped head in 3 of 12 at E14.5

abnormal tracheal cartilage morphology ( J:326544 )

• missing

ectopic cartilage ( J:326544 )

• ectopic unidentifiable cartilage and bones in the middle ear

ectopic bone ( J:326544 )

• ectopic unidentifiable cartilage and bones in the middle ear

endocrine/exocrine glands

athymia ( J:326544 )

• in 1 embryos at E17.5

cellular

abnormal DNA-templated transcription ( J:326544 )

• increase in exon skipping and intron retention in cells from heads of E9.0 embryos

cardiovascular system

absent aorticopulmonary septum ( J:326544 )

• fails to differentiate by E17.5 in one embryo

homeostasis/metabolism

edema ( J:326544 )

• in 19% of embryos at E12.5

• subepidermal edema in 4 of 12 of embryos at E14.5

digestive/alimentary system

cleft palate ( J:326544 )

• at E14.5 and E17.5

• a single pup at P0 had a cleft in the premaxilla and was missing the palatine shelves but no bony palate defects were found in 3 other pups

respiratory system

abnormal nose morphology ( J:326544 )

• nasal cleft in 3 of 12 embryos at E14.5

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

absent nasal septum ( J:326544 )

• in some embryos at E14.5

abnormal nasopharynx morphology ( J:326544 )

• the nasopharyngeal cavity is not formed in some embryos at E14.5

abnormal tracheal cartilage morphology ( J:326544 )

• missing

embryo

abnormal embryonic tissue morphology ( J:326544 )

• subepidermal swelling in 66% of embryos at E11.5

• at E17.5 no phenotypically normal embryos are found unlike at earlier time points

pharyngeal arch hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

first pharyngeal arch hypoplasia ( J:326544 )

• in 66% of embryos at E11.5

• in 19% of embryos at E12.5

behavior/neurological

absent gastric milk in neonates ( J:326544 )

• in most neonates

nervous system

hindbrain hypoplasia ( J:326544 )

• in 35% and 74% of embryos at E9.5 and E10.5

midbrain hypoplasia ( J:326544 )

• in 35% and 74% of embryos at E9.5 and E10.5

• in 25% of embryos at E12.5

abnormal forebrain morphology ( J:326544 )

• swelling in 66% at E11.5

• abnormal in 25% of embryos at E12.5

enlarged lateral ventricles ( J:326544 )

• at E14.5 and E17.5 in 1 embryo at each age

thin cerebral cortex ( J:326544 )

• at E14.5 and E17.5 in 1 embryo at each age

abnormal cranial ganglia morphology ( J:326544 )

• reduced in size with abnormal projections into the pharyngeal arches at E10.5 in some embryos

abnormal geniculate ganglion morphology ( J:326544 )

• the proximal portion is thicker

abnormal vestibular ganglion morphology ( J:326544 )

• the proximal portion is thicker

abnormal glossopharyngeal nerve morphology ( J:326544 )

• thicker in the proximal region before the pharyngeal arch, has an ectopic projection into pharyngeal arch 2, and reduced projection into pharyngeal arch 3

abnormal trigeminal nerve morphology ( J:326544 )

• ectopic projection

abnormal mandibular nerve morphology ( J:326544 )

• reduced and appears to have formed ventral to the first arch at E10.5 in some embryos

abnormal maxillary nerve morphology ( J:326544 )

• disorganized and missing at E10.5 in some embryos

abnormal ophthalmic nerve morphology ( J:326544 )

• reduced and fails to extend over the lens at E10.5 in some embryos

abnormal vagus nerve morphology ( J:326544 )

• abnormal bundle at the distal end with reduced projections into the heart

small dorsal root ganglion ( J:326544 )

• small and bifurcated at the proximal end

hearing/vestibular/ear

small ears ( J:326544 )

• in 4 of 5 neonates

• in 3 of 12 embryos at E14.5

absent tympanic ring ( J:326544 )

craniofacial

abnormal cranium morphology ( J:326544 )

abnormal metopic suture morphology ( J:326544 )

• heterotopic ossification in 1 pup at P0

basisphenoid bone hypoplasia ( J:326544 )

• in some embryos

• hypoplastic and asymmetric in 3 pups at P0

Meckel's cartilage hypoplasia ( J:326544 )

• at E14.5 and E17.5

frontal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

interparietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

parietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

absent alisphenoid bone ( J:326544 )

• at E14.5 and E17.5

abnormal temporal bone morphology ( J:326544 )

• absent at E14.5 and E17.5

small temporal bone squamous part ( J:326544 )

• in 3 pups

absent zygomatic arch ( J:326544 )

• fails to form in some embryos

absent hyoid bone ( J:326544 )

• hypoplastic or absent

hyoid bone hypoplasia ( J:326544 )

• hypoplastic or absent

abnormal jaw morphology ( J:326544 )

• distal ends are abnormally shaped

abnormal mandible morphology ( J:326544 )

• cleft in the mandible in 25% of embryos at E12.5

• mandible is bilaterally smaller and asymmetrical in some embryos at E14.5 and E17.5

• proximal elements are absent

absent mandibular angle ( J:326544 )

absent mandibular condyloid process ( J:326544 )

absent mandibular coronoid process ( J:326544 )

mandible hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

abnormal premaxilla morphology ( J:326544 )

• clefts of the pre-maxillary cartilage and bone

• at P0 a single pup had a curved but closed premaxilla

maxilla hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

domed cranium ( J:326544 )

• dome-shaped head in 3 of 12 at E14.5

abnormal frontonasal prominence morphology ( J:326544 )

• cleft in the frontonasal prominence in 25% of embryos at E12.5

absent frontonasal prominence ( J:326544 )

• in 66% of embryos at E11.5

frontonasal prominence hypoplasia ( J:326544 )

• at E10.5

• hypoplastic and cleft at E12.5 in 25% of embryos

• hypoplastic and cleft frontonasal region in 4 of 12 embryos at E14.5

mandibular prominence hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

absent maxillary prominence ( J:326544 )

• in 66% of embryos at E11.5

maxillary prominence hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

• hypoplastic and cleft in 25% of embryos at E12.5

pharyngeal arch hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

first pharyngeal arch hypoplasia ( J:326544 )

• in 66% of embryos at E11.5

• in 19% of embryos at E12.5

cleft palate ( J:326544 )

• at E14.5 and E17.5

• a single pup at P0 had a cleft in the premaxilla and was missing the palatine shelves but no bony palate defects were found in 3 other pups

abnormal nose morphology ( J:326544 )

• nasal cleft in 3 of 12 embryos at E14.5

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

absent nasal septum ( J:326544 )

• in some embryos at E14.5

short snout ( J:326544 )

• in 4 of 5 neonates

abnormal head shape ( J:326544 )

• in 4 of 5 neonates

small ears ( J:326544 )

• in 4 of 5 neonates

• in 3 of 12 embryos at E14.5

growth/size/body

cleft palate ( J:326544 )

• at E14.5 and E17.5

• a single pup at P0 had a cleft in the premaxilla and was missing the palatine shelves but no bony palate defects were found in 3 other pups

abnormal nose morphology ( J:326544 )

• nasal cleft in 3 of 12 embryos at E14.5

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

absent nasal septum ( J:326544 )

• in some embryos at E14.5

short snout ( J:326544 )

• in 4 of 5 neonates

abnormal head shape ( J:326544 )

• in 4 of 5 neonates

small ears ( J:326544 )

• in 4 of 5 neonates

• in 3 of 12 embryos at E14.5

abnormal head development ( J:326544 )

• absence of the ventral portion of the head and face in 19% of embryos at E12.5

• absence of the ventral portion of the head and face in 4 of 12 embryos at E14.5

• many neural crest derived bones and cartilages are hypoplastic or missing in embryos at E14.5 and E17.5

immune system

athymia ( J:326544 )

• in 1 embryos at E17.5

hematopoietic system

athymia ( J:326544 )

• in 1 embryos at E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebrocostomandibular syndrome		DOID:0111248	OMIM:117650	J:326544