Phenotypes Associated with This Genotype

Genotype
MGI:3033457

• Allelic Composition: Dph1^tm2Bhr/Dph1^tm2Bhr
• Genetic Background: either: 129/Sv or (involves: 129/Sv * C57BL/6)

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

mortality/aging

neonatal lethality, complete penetrance ( J:88090 )

• homozygotes die soon after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:88090 )

• 30-50% of embryos die between E11.5 and E13.5

embryonic lethality, complete penetrance ( J:88090 )

• Background Sensitivity: on a pure 129/Sv background, 100% of homozygous embryos die

pigmentation

abnormal eye pigmentation ( J:88090 )

• delayed eye pigmentation at E10.5

cellular

abnormal cell cycle ( J:88090 )

• reduction in the number of S phase cells in cultured MEFs

craniofacial

abnormal craniofacial bone morphology ( J:88090 )

cleft palate ( J:88090 )

• seen in newborns

embryo

abnormal embryo turning ( J:88090 )

• turned by E9.5 but are very small

embryonic growth retardation ( J:88090 )

• development appears to be delayed 12-24 hours

abnormal neural tube morphology ( J:88090 )

• abnormalities of the neural tube in the midbrain area

abnormal somite development ( J:88090 )

• E8.5 embryos with 0-2 somites as opposed to 6-7 somites normally

hematopoietic system

increased nucleated erythrocyte cell number ( J:88090 )

• erythrocytes remain nucleated at E16.5

homeostasis/metabolism

hydrops fetalis ( J:88090 )

• common by E13.5-E14.5

limbs/digits/tail

preaxial polydactyly ( J:88090 )

• preaxial polydactyly is common

liver/biliary system

abnormal hepatoblast morphology ( J:88090 )

• basophilic elongated nuclei in E16.5 hepatoblasts

liver degeneration ( J:88090 )

• focal liver degeneration at E16.5

respiratory system

abnormal lung development ( J:88090 )

• immature lung phenotype

• hypercellularity

thick lung-associated mesenchyme ( J:88090 )

• thickened mesenchyme

primary atelectasis ( J:88090 )

• lungs never inflate prior to death

respiratory failure ( J:88090 )

• homozygous mice die of respiratory distress

skeleton

abnormal craniofacial bone morphology ( J:88090 )

abnormal skeleton development ( J:88090 )

vision/eye

abnormal eye morphology ( J:88090 )

• absence of the eye altogether occasionally

abnormal eye pigmentation ( J:88090 )

• delayed eye pigmentation at E10.5

nervous system

abnormal neural tube morphology ( J:88090 )

• abnormalities of the neural tube in the midbrain area

growth/size/body

cleft palate ( J:88090 )

• seen in newborns

embryonic growth retardation ( J:88090 )

• development appears to be delayed 12-24 hours

decreased fetal weight ( J:88090 )

• body weight of E18.5 embryos is about 50% of normal

digestive/alimentary system

cleft palate ( J:88090 )

• seen in newborns