Phenotypes associated with this allele

• Allele Symbol: Wbp11^em1Gcha
• Allele Name: endonuclease-mediated mutation 1, Gavin Chapman
• Allele ID: MGI:6509996
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Wbp11^em1Gcha/Wbp11^em1Gcha	involves: C57BL/6J * FVB/N	MGI:6509997
ht2	Wbp11^em1Gcha/Wbp11^+	involves: C57BL/6J * FVB/N	MGI:6510001

Genotype
MGI:6509997

hm1

• Allelic Composition: Wbp11^em1Gcha/Wbp11^em1Gcha
• Genetic Background: involves: C57BL/6J * FVB/N

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

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:300837 )

• no embryos are found at E8.5

Genotype
MGI:6510001

ht2

• Allelic Composition: Wbp11^em1Gcha/Wbp11⁺
• Genetic Background: involves: C57BL/6J * FVB/N

mortality/aging

preweaning lethality, incomplete penetrance ( J:300837 )

• fewer than the expected Mendelian ratio of mice is obtained, with only 1/3 of live mice being heterozygous post-weaning; mice are also underrepresented at P12 and E17.5, indicating that a proportion of mice die during gestation and shortly after birth

• Background Sensitivity: the percentage of heterozygous mice that die increases with subsequent backcrosses onto C57BL/6J or FVB/N; due to this increased lethality, reported phenotypes are on the second FVB/N backcross unless otherwise noted

• more male than female heterozygotes die or need to be culled on subsequent backcrosses onto C57BL/6J or FVB/N

prenatal lethality, incomplete penetrance ( J:300837 )

• heterozygotes are underrepresented at E17.5, indicating that a proportion of mice die during gestation

growth/size/body

cleft palate ( J:300837 )

• Background Sensitivity: 3 of 8 mice backcrossed 3 generations to FVB/N exhibit severe cleft palate, a defect not seen in E17.5 fetuses from a second FVB/N backcross generation

choanal atresia ( J:300837 )

• 3 of 10 fetuses have unilateral choanal atresia at E17.5 in mice backcrossed 2 generations to FVB/N

• mice backcrossed 3 generations to FVB/N exhibit choanal atresia at E15.5

embryonic growth retardation ( J:300837 )

• E8.5 embryos show a slight delay in development of about half a day

decreased fetal weight ( J:300837 )

• E17.5 fetuses weigh 30% less on average than wild-type littermates

• however, E17.5 fetuses do not show delayed development

hematopoietic system

ectopic thymus ( J:300837 )

• low penetrance of ectopic thymus at E17.5

• low penetrance of hypoplastic ectopic thymus at E15.5 in mice backcrossed 3 generations to FVB/N

embryo

embryonic growth retardation ( J:300837 )

• E8.5 embryos show a slight delay in development of about half a day

decreased placenta weight ( J:300837 )

• placentas weigh 10% less than of wild-type, however the ratio of fetal weight to placental weight is 22% lower in heterozygotes

immune system

ectopic thymus ( J:300837 )

• low penetrance of ectopic thymus at E17.5

• low penetrance of hypoplastic ectopic thymus at E15.5 in mice backcrossed 3 generations to FVB/N

craniofacial

cleft palate ( J:300837 )

• Background Sensitivity: 3 of 8 mice backcrossed 3 generations to FVB/N exhibit severe cleft palate, a defect not seen in E17.5 fetuses from a second FVB/N backcross generation

choanal atresia ( J:300837 )

• 3 of 10 fetuses have unilateral choanal atresia at E17.5 in mice backcrossed 2 generations to FVB/N

• mice backcrossed 3 generations to FVB/N exhibit choanal atresia at E15.5

digestive/alimentary system

cleft palate ( J:300837 )

• Background Sensitivity: 3 of 8 mice backcrossed 3 generations to FVB/N exhibit severe cleft palate, a defect not seen in E17.5 fetuses from a second FVB/N backcross generation

abnormal esophagus morphology ( J:300837 )

• 2 of 10 fetuses exhibit a small blind sac attached to the esophagus near the stomach at E17.5

• mice backcrossed 3 generations to FVB/N have a blind sac arising from the esophagus at E15.5

• however, trachea-esophageal fistula or esophageal atresia are not seen and more severe esophageal defects are not seen in mice backcrossed 3 generations to FVB/N

homeostasis/metabolism

cerebral edema ( J:300837 )

• edema in the head at E17.5 which is associated with reduced brain volume

• mice backcrossed 3 generations to FVB/N exhibit edema at E15.5

liver/biliary system

small liver ( J:300837 )

• smaller liver at E17.5

nervous system

cerebral edema ( J:300837 )

• edema in the head at E17.5 which is associated with reduced brain volume

• mice backcrossed 3 generations to FVB/N exhibit edema at E15.5

decreased brain size ( J:300837 )

• E17.5 fetuses have on average a 24% smaller brain, with lower antero-posterior length, cortical width, and cortical thickness

renal/urinary system

abnormal kidney morphology ( J:300837 )

• the smaller kidneys at E17.5 are abnormally elongated

small kidney ( J:300837 )

• both left and right kidneys are 30% smaller

• however, kidneys are structurally normal

• 4 of 10 heterozygotes exhibit smaller kidneys that are abnormally elongated at E17.5

respiratory system

choanal atresia ( J:300837 )

• 3 of 10 fetuses have unilateral choanal atresia at E17.5 in mice backcrossed 2 generations to FVB/N

• mice backcrossed 3 generations to FVB/N exhibit choanal atresia at E15.5

small lung ( J:300837 )

• lungs are smaller at E17.5

skeleton

sternebra fusion ( J:300837 )

• mice commonly show fusions between the 3rd and 4th sternebrae

abnormal rib morphology ( J:300837 )

• mice commonly show rib defects of either small or absent 13th rib

abnormal cervical rib ( J:300837 )

• cervical defects include cervical ribs in P12 mice

decreased rib number ( J:300837 )

• the 13th rib is sometimes absent

abnormal thoracic vertebrae morphology ( J:300837 )

• fewer defects are seen in the thoracic region, with fused vertebrae or hypoplastic transverse processes

• however, no defects in sacral or caudal regions are seen

thoracic vertebral fusion ( J:300837 )

• fused thoracic vertebrae are seen, but to a much lower extent than for cervical vertebrae

abnormal cervical vertebrae morphology ( J:300837 )

• P12 mice exhibit cervical defects including absent vertebral elements, asymmetry of the midline, hemi- and butterfly vertebrae, cervical ribs, hypoplastic transverse processes and dyssymphysis

cervical vertebral fusion ( J:300837 )

• P12 mice exhibit cervical vertebral fusions

decreased lumbar vertebrae number ( J:300837 )

• majority of pups have 5 lumbar vertebrae rather than the usual 6

abnormal vertebral transverse process morphology ( J:300837 )

• cervical and thoracic defects include hypoplastic transverse processes at P12

hemivertebra ( J:300837 )

• cervical defects include hemivertebrae in P12 mice

endocrine/exocrine glands

ectopic thymus ( J:300837 )

• low penetrance of ectopic thymus at E17.5

• low penetrance of hypoplastic ectopic thymus at E15.5 in mice backcrossed 3 generations to FVB/N

cardiovascular system

cardiovascular system phenotype ( J:300837 )

N • mice show no heart defects