Phenotypes associated with this allele

• Allele Symbol: Ctnnbip1^tm1Taki
• Allele Name: targeted mutation 1, Tetsu Akiyama
• Allele ID: MGI:3045424
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctnnbip1^tm1Taki/Ctnnbip1^tm1Taki	involves: C57BL/6 * CBA	MGI:3045426

Genotype
MGI:3045426

hm1

• Allelic Composition: Ctnnbip1^tm1Taki/Ctnnbip1^tm1Taki
• Genetic Background: involves: C57BL/6 * CBA

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

Developmental defect images

mortality/aging

neonatal lethality, complete penetrance ( J:90666 )

• homozygous mutants die within several hours of birth with a ruptured gut

cellular

abnormal apoptosis ( J:90666 )

• at E11.0 increased apoptosis in the ventral craniofacial mesenchyme and first branchial arch is seen in mutant embryos

increased metanephric mesenchyme apoptosis ( J:125187 )

• at E12.5, homozygous mutant metanephroi with T-shaped UBs display apoptotic cells not only in the anterior region (as in wild-type controls) but also in the ventral MM region

• at E12.5, the number of apototic cells in homozygous mutant metanephroi is significantly higher than that in E12.0- and E12.25 wild-type metanephroi with T-shaped UBs

craniofacial

abnormal cranium morphology ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the rostral skull is absent

absent maxilla ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the maxillary bone is absent

cleft secondary palate ( J:90666 )

• at E18.5 a cleft secondary palate is seen in 40% (6/15) of mutant embryos

abnormal nose morphology ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the nose is absent

digestive/alimentary system

abnormal digestive system morphology ( J:90666 )

• rupture of the gut is seen in almost all homozygous neonates

cleft secondary palate ( J:90666 )

• at E18.5 a cleft secondary palate is seen in 40% (6/15) of mutant embryos

embryo

increased metanephric mesenchyme apoptosis ( J:125187 )

• at E12.5, homozygous mutant metanephroi with T-shaped UBs display apoptotic cells not only in the anterior region (as in wild-type controls) but also in the ventral MM region

• at E12.5, the number of apototic cells in homozygous mutant metanephroi is significantly higher than that in E12.0- and E12.25 wild-type metanephroi with T-shaped UBs

abnormal rostral-caudal axis patterning ( J:90666 )

• expression of markers of the anterior neural plate are barely detectable and expression of markers of the posterior neural plate is expanded anteriorly

renal/urinary system

increased metanephric mesenchyme apoptosis ( J:125187 )

• at E12.5, homozygous mutant metanephroi with T-shaped UBs display apoptotic cells not only in the anterior region (as in wild-type controls) but also in the ventral MM region

• at E12.5, the number of apototic cells in homozygous mutant metanephroi is significantly higher than that in E12.0- and E12.25 wild-type metanephroi with T-shaped UBs

abnormal metanephros morphology ( J:125187 )

• at E12.5, about 22% (6 of 27) of homozygous mutant metanephroi exhibit T-shaped UBs, never seen in heterozygous controls

delayed kidney development ( J:125187 )

• at E12.5, ureteric bud branching is delayed and T-shaped, bifurcated UBs are frequently observed, unlike in wild-type metanephroi

absent kidney ( J:90666 , J:125187 )

• at E18.5, 13% (4/32) of homozygous mutants lack kidneys but still have adrenal glands (J:90666)

• at E18.5, 1 of 32 of homozygotes display bilateral renal agenesis (J:125187)

• however, all surviving kidneys are of normal size (J:125187)

single kidney ( J:125187 )

• at E18.5, 3 of 32 of homozygotes display unilateral renal agenesis

absent ureter ( J:125187 )

• at E18.5, renal agenesis is always accompanied by the loss of the ipsilateral ureter

• however, adrenal glands and gonads are present

impaired branching involved in ureteric bud morphogenesis ( J:125187 )

• at E12.5, the number of ureteric bud (UB) tips is significantly reduced in homozygous mutant metanephroi relative to that in heterozygous controls (less than 5 vs. 6-7 tips, respectively)

• at E12.5, about 22% (6 of 27) of homozygous mutant metanephroi exhibit arrest of UB branching at the T-shaped stage, unlike heterozygous controls

abnormal ureteric bud invasion ( J:125187 )

• at E12.5, the UB reaches neither anterior nor ventral mesenchymal regions in 22% of cases

respiratory system

abnormal nose morphology ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the nose is absent

skeleton

abnormal cranium morphology ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the rostral skull is absent

absent maxilla ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the maxillary bone is absent

vision/eye

anophthalmia ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the eyes are absent

nervous system

abnormal telencephalon development ( J:90666 )

• at E18.5 development of the cerebrum is defective in 47% (7/15) of homozygous embryos

exencephaly ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) exencephaly is seen

growth/size/body

abnormal head morphology ( J:90666 )

• at E18.5 truncation of the rostral head is seen

cleft secondary palate ( J:90666 )

• at E18.5 a cleft secondary palate is seen in 40% (6/15) of mutant embryos

abnormal nose morphology ( J:90666 )

• at E18.5 in the most severely affected mutant embryos (8 out of 57) the nose is absent