Phenotypes associated with this allele

• Allele Symbol: Cdc42^tm1.1Ayam
• Allele Name: targeted mutation 1.1, Atsushi Yamada
• Allele ID: MGI:5320442
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cdc42^tm1.1Ayam/Cdc42^tm1.1Ayam Tg(Prrx1-cre)1Cjt/0	involves: 129P2/OlaHsd * C57BL/6 * ICR * SJL	MGI:5320443
cn2	Cdc42^tm1.1Ayam/Cdc42^tm1.1Ayam Tg(Mpz-cre)94Imeg/0	Not Specified	MGI:7335182

Genotype
MGI:5320443

cn1

• Allelic Composition: Cdc42^tm1.1Ayam/Cdc42^tm1.1Ayam; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * ICR * SJL

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:184022 )

postnatal lethality, incomplete penetrance ( J:184022 )

• more than 90% (42 of 46) of mice die within a few days of birth

behavior/neurological

abnormal suckling behavior ( J:184022 )

• absence of milk from the stomachs of many neonates

weakness ( J:184022 )

• appear weaker at birth

craniofacial

abnormal palatal shelf morphology ( J:184022 )

• failure of palatal shelf elongation

cleft palate ( J:184022 )

• at P0

limbs/digits/tail

abnormal limb morphology ( J:184022 )

• short, thick and webbed limbs

abnormal interdigital cell death ( J:184022 )

• decreased at E12.5 - E14.5

abnormal autopod morphology ( J:184022 )

• ectopic cartilage is present between the 2nd and 3rd digits in the forelimbs at E14.5, E15.5, E16.5, E18.5 and P0

• at E15.5, E16.5, E18.5 and P0 autopods display thick cartilage and abnormal joints

abnormal autopod joint morphology ( J:184022 )

• at E15.5, E16.5, E18.5 and P0 autopods display abnormal joints

brachydactyly ( J:184022 )

syndactyly ( J:184022 )

fused phalanges ( J:184022 )

• fusion of the phalanges/metatarsals on the forelimbs at E18

interdigital webbing ( J:184022 )

• hindlimbs show only soft tissue syndactyly

• webbing between the 1st and 2nd, 2nd and 3rd, and 3rd and 4th digits

abnormal limb bone morphology ( J:184022 )

• shorter and thicker mineralized bones in the fore- and hindlimbs in neonates

fused metacarpal bones ( J:184022 )

• fusion of the 2nd and 3rd metacarpal bones

• however, no fusion of the metatarsal bones is seen

short limbs ( J:184022 )

• in mice that survive to weaning

growth/size/body

abnormal palatal shelf morphology ( J:184022 )

• failure of palatal shelf elongation

cleft palate ( J:184022 )

• at P0

decreased birth body size ( J:184022 )

• smaller at birth

decreased body length ( J:184022 )

• in mice that survive to weaning

digestive/alimentary system

abnormal palatal shelf morphology ( J:184022 )

• failure of palatal shelf elongation

cleft palate ( J:184022 )

• at P0

skeleton

abnormal limb bone morphology ( J:184022 )

• shorter and thicker mineralized bones in the fore- and hindlimbs in neonates

fused phalanges ( J:184022 )

• fusion of the phalanges/metatarsals on the forelimbs at E18

fused metacarpal bones ( J:184022 )

• fusion of the 2nd and 3rd metacarpal bones

• however, no fusion of the metatarsal bones is seen

abnormal long bone epiphyseal plate morphology ( J:184022 )

• non-resorbed hypertrophic cartilage remains in the growth plates

increased width of hypertrophic chondrocyte zone ( J:184022 )

disorganized long bone epiphyseal plate ( J:184022 )

• columnar disorganization of the proliferating and hypertrophic chondrocytes in neonates

abnormal xiphoid process morphology ( J:184022 )

• malformed or lost in mice with a split sternum

split sternum ( J:184022 )

• the sternal bar is frequently bifurcated

abnormal cartilage development ( J:184022 )

• in culture mesenchymal cells from E12.5 fore- and hindlimbs display inhibition of chondrocyte differentiation

abnormal joint morphology ( J:184022 )

• at E15.5, E16.5, E18.5 and P0 autopods display abnormal joints

abnormal autopod joint morphology ( J:184022 )

• at E15.5, E16.5, E18.5 and P0 autopods display abnormal joints

abnormal intramembranous bone ossification ( J:184022 )

• neonates display abnormal calcification of the cranium; including the frontal, parietal, and interparietal bones

delayed fontanelle closure ( J:184022 )

• retarded fusion of the fontanel is seen at P0

cellular

abnormal interdigital cell death ( J:184022 )

• decreased at E12.5 - E14.5

Genotype
MGI:7335182

cn2

• Allelic Composition: Cdc42^tm1.1Ayam/Cdc42^tm1.1Ayam; Tg(Mpz-cre)94Imeg/0
• Genetic Background: Not Specified

mortality/aging

neonatal lethality, incomplete penetrance ( J:250065 )

• nearly all die within 1 day of birth and appear weak with no milk in their stomachs

behavior/neurological

absent gastric milk in neonates ( J:250065 )

craniofacial

abnormal craniofacial bone morphology ( J:250065 )

• severe deformities in the cranial bones

abnormal frontal bone morphology ( J:250065 )

• either reduced ossification or hypoplastic at E16.5 and e18.5

abnormal mandible morphology ( J:250065 )

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal premaxilla morphology ( J:250065 )

• unfused nasal capsule

short premaxilla ( J:250065 )

short maxilla ( J:250065 )

abnormal nasal bone morphology ( J:250065 )

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal medial nasal prominence morphology ( J:250065 )

• at E12.5 and E13.5, medial nasal processes fail to merge

abnormal secondary palate development ( J:250065 )

• at E15.5 coalescence of the palatal shelves is not seen

• however, up to E14.5 palatal shelf development appears similar to controls

absent palatal shelf ( J:250065 )

• absence of palatal shelves associated with hypoplastic palatine bone

cleft palate ( J:250065 )

• in all mice

failure of palatal shelf elevation ( J:250065 )

abnormal nasal septum morphology ( J:250065 )

• at E12.5 and E13.5 the nasal septum is divided into right and left in the anterior position

short snout ( J:250065 )

• in 13 of 15 mice

facial cleft ( J:250065 )

• in 13 of 15 mice

cardiovascular system

intracranial hemorrhage ( J:250065 )

• occasionally seen

nervous system

intracranial hemorrhage ( J:250065 )

• occasionally seen

digestive/alimentary system

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal secondary palate development ( J:250065 )

• at E15.5 coalescence of the palatal shelves is not seen

• however, up to E14.5 palatal shelf development appears similar to controls

absent palatal shelf ( J:250065 )

• absence of palatal shelves associated with hypoplastic palatine bone

cleft palate ( J:250065 )

• in all mice

failure of palatal shelf elevation ( J:250065 )

growth/size/body

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal nasal bone morphology ( J:250065 )

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal secondary palate development ( J:250065 )

• at E15.5 coalescence of the palatal shelves is not seen

• however, up to E14.5 palatal shelf development appears similar to controls

absent palatal shelf ( J:250065 )

• absence of palatal shelves associated with hypoplastic palatine bone

cleft palate ( J:250065 )

• in all mice

failure of palatal shelf elevation ( J:250065 )

abnormal nasal septum morphology ( J:250065 )

• at E12.5 and E13.5 the nasal septum is divided into right and left in the anterior position

short snout ( J:250065 )

• in 13 of 15 mice

facial cleft ( J:250065 )

• in 13 of 15 mice

skeleton

abnormal craniofacial bone morphology ( J:250065 )

• severe deformities in the cranial bones

abnormal frontal bone morphology ( J:250065 )

• either reduced ossification or hypoplastic at E16.5 and e18.5

abnormal mandible morphology ( J:250065 )

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal premaxilla morphology ( J:250065 )

• unfused nasal capsule

short premaxilla ( J:250065 )

short maxilla ( J:250065 )

abnormal nasal bone morphology ( J:250065 )

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

respiratory system

abnormal nasal bone morphology ( J:250065 )

abnormal nasal septum morphology ( J:250065 )

• at E12.5 and E13.5 the nasal septum is divided into right and left in the anterior position

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate		DOID:674		J:250065