Phenotypes associated with this allele

• Allele Symbol: Zfhx4^tm1.1Rnis
• Allele Name: targeted mutation 1.1, Riko Nishimura
• Allele ID: MGI:6834794
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zfhx4^tm1.1Rnis/Zfhx4^tm1.1Rnis	involves: C57BL * C57BL/6NCrlj * CBA/JNCrlj * DBA	MGI:7344365
cx2	Sp7^tm1.1Rnis/Sp7^+ Zfhx4^tm1.1Rnis/Zfhx4^tm1.1Rnis	involves: C57BL * C57BL/6NCrlj * CBA/JNCrlj * DBA	MGI:7344366

Genotype
MGI:7344365

hm1

• Allelic Composition: Zfhx4^tm1.1Rnis/Zfhx4^tm1.1Rnis
• Genetic Background: involves: C57BL * C57BL/6NCrlj * CBA/JNCrlj * DBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:316165 )

• die within 1 day of birth

respiratory system

abnormal tracheal cartilage morphology ( J:316165 )

• hypoplasia of the tracheal-bronchial ring at P0

respiratory distress ( J:316165 )

homeostasis/metabolism

cyanosis ( J:316165 )

• become cyanotic with gasping respirations and air-distended stomachs

craniofacial

small cranium ( J:316165 )

• hypoplasia of the skull at E15.5 and E16.5

absent mandibular condyloid process ( J:316165 )

mandible hypoplasia ( J:316165 )

• at E15.5 and E16.5

abnormal secondary palate development ( J:316165 )

• at E16.5 palatal shelves are degraded

failure of palatal shelf elevation ( J:316165 )

• not elevated at E14.5

• however, growth and elongation of palatal shelves are similar to wild-type controls at E13.5

• in culture palatal shelves elevate and fuse similar to wild-type controls

complete cleft palate ( J:316165 )

• complete cleft with 100% penetrance

limbs/digits/tail

short humerus ( J:316165 )

• hypoplastic at E15.5 and E16.5

short femur ( J:316165 )

• hypoplastic at E15.5 and E16.5

skeleton

small cranium ( J:316165 )

• hypoplasia of the skull at E15.5 and E16.5

absent mandibular condyloid process ( J:316165 )

mandible hypoplasia ( J:316165 )

• at E15.5 and E16.5

short humerus ( J:316165 )

• hypoplastic at E15.5 and E16.5

short femur ( J:316165 )

• hypoplastic at E15.5 and E16.5

abnormal tracheal cartilage morphology ( J:316165 )

• hypoplasia of the tracheal-bronchial ring at P0

decreased chondrocyte number ( J:316165 )

• decrease in the number of hypertrophic chondrocytes at E15.5

abnormal endochondral bone ossification ( J:316165 )

• show impaired calcification of cartilage matrices at E16.5

delayed bone ossification ( J:316165 )

• delayed ossification of the humerus and femur at E15.5 and E16.5

digestive/alimentary system

abnormal secondary palate development ( J:316165 )

• at E16.5 palatal shelves are degraded

failure of palatal shelf elevation ( J:316165 )

• not elevated at E14.5

• however, growth and elongation of palatal shelves are similar to wild-type controls at E13.5

• in culture palatal shelves elevate and fuse similar to wild-type controls

complete cleft palate ( J:316165 )

• complete cleft with 100% penetrance

growth/size/body

absent mandibular condyloid process ( J:316165 )

mandible hypoplasia ( J:316165 )

• at E15.5 and E16.5

abnormal secondary palate development ( J:316165 )

• at E16.5 palatal shelves are degraded

failure of palatal shelf elevation ( J:316165 )

• not elevated at E14.5

• however, growth and elongation of palatal shelves are similar to wild-type controls at E13.5

• in culture palatal shelves elevate and fuse similar to wild-type controls

complete cleft palate ( J:316165 )

• complete cleft with 100% penetrance

Genotype
MGI:7344366

cx2

• Allelic Composition: Sp7^tm1.1Rnis/Sp7⁺; Zfhx4^tm1.1Rnis/Zfhx4^tm1.1Rnis
• Genetic Background: involves: C57BL * C57BL/6NCrlj * CBA/JNCrlj * DBA

skeleton

decreased chondrocyte number ( J:316165 )

• decrease in the number of hypertrophic chondrocytes at E16.5 that is more sever compared to mutant mice wild-type for Sp7

abnormal endochondral bone ossification ( J:316165 )

• impairment of calcification of the femur is more sever at E16.5 compared to mutant mice wild-type for Sp7