Phenotypes associated with this allele

• Allele Symbol: Por^tm1Cbk
• Allele Name: targeted mutation 1, Charles B Kasper
• Allele ID: MGI:2159651
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Por^tm1Cbk/Por^tm1Cbk	involves: 129S1/Sv * 129X1/SvJ	MGI:4830887
hm2	Por^tm1Cbk/Por^tm1Cbk	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3618797
ht3	Por^tm1Cbk/Por^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3618815

Genotype
MGI:4830887

hm1

• Allelic Composition: Por^tm1Cbk/Por^tm1Cbk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

vision/eye

vision/eye phenotype ( J:164007 )

N • mice generated from mutant cell line H11 do not exhibit enlarged eyes

Genotype
MGI:3618797

hm2

• Allelic Composition: Por^tm1Cbk/Por^tm1Cbk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Por^tm1Cbk/Por^tm1Cbk embryos either exhibit neural tube, cardiac, eye, and limb bud abnormalities or retarded development

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:74666 )

• homozygotes are present at the expected Mendelian ratios at E8.5-E10.5; however, the frequency of homozygotes declines thereafter and no homozygous embryos are observed after E13.5

embryo

abnormal embryo development ( J:74666 )

• at E10.5 and E11.5, 90% of homozygotes are significantly friable and display embryonic abnormalities that can be divided into two classes

• Type I embryos are relatively well-developed but exhibit neural tube, cardiac, eye, and limb bud abnormalities

• Type II mutant embryos show a more severe, generalized retardation of development

embryonic growth retardation ( J:74666 )

• after ~E8.5, most Type II mutant embryos exhibit significant growth retardation

• at E10.5, most Type II mutants are turned but appear severely underdeveloped and small relative to wild-type embryos

abnormal embryonic tissue morphology ( J:74666 )

• at E10.5, Type II mutant embryos exhibit a normal yolk sac but no identifiable embryonic structures

abnormal pharyngeal arch morphology ( J:74666 )

• at E10.5, Type I mutant embryos show abnormal size and positioning of the branchial arches relative to the fronto-nasal region

abnormal neural fold elevation formation ( J:74666 )

• at E10.5, Type I mutant embryos show a variable open neural tube phenotype, with hindbrain neural folds failing to elevate and fuse

incomplete rostral neuropore closure ( J:74666 )

• at E10.5, Type I mutants display failure of neural fold elevation and dorsal fusion, and eversion of the neural tube in the hindbrain and midbrain region resulting in a "ruffled" head morphology

growth/size/body

embryonic growth retardation ( J:74666 )

• after ~E8.5, most Type II mutant embryos exhibit significant growth retardation

• at E10.5, most Type II mutants are turned but appear severely underdeveloped and small relative to wild-type embryos

cardiovascular system

abnormal myocardium layer morphology ( J:74666 )

• at E11.5, some Type I mutant embryos exhibit a thinner myocardial wall while others display a thickened myocardial wall

abnormal cardiac outflow tract development ( J:74666 )

• at E11.5, Type I mutant embryos exhibit abnormal development of the outflow tract, with little evidence of mesenchyme proliferation

abnormal heart ventricle morphology ( J:74666 )

• at E11.5, Type I mutant embryos exhibit impaired ventricular development

absent trabeculae carneae ( J:74666 )

• at E11.5, Type I mutant hearts show a notable reduction in the development of ventricular trabeculae

abnormal pericardial cavity morphology ( J:74666 )

• at E10.5, Type I mutants display an enlarged, fluid-filled pericardial cavity

pericardial edema ( J:74666 )

• at E10.5, Type II mutants exhibit an observable heartbeat despite the presence of pericardial edema

intracranial hemorrhage ( J:74666 )

• at E10.5, Type I mutant embryos display petechial hemorrhaging at the edges of hindbrain neural folds

homeostasis/metabolism

pericardial edema ( J:74666 )

• at E10.5, Type II mutants exhibit an observable heartbeat despite the presence of pericardial edema

limbs/digits/tail

delayed limb development ( J:74666 )

• at E10.5, Type II mutant embryos display delayed fore- and hindlimb formation

short tail ( J:74666 )

• at E10.5, Type I mutant embryos display a short tail

craniofacial

abnormal craniofacial development ( J:74666 )

• at E10.5, Type II mutant embryos display delayed cranial development

abnormal pharyngeal arch morphology ( J:74666 )

• at E10.5, Type I mutant embryos show abnormal size and positioning of the branchial arches relative to the fronto-nasal region

nervous system

intracranial hemorrhage ( J:74666 )

• at E10.5, Type I mutant embryos display petechial hemorrhaging at the edges of hindbrain neural folds

incomplete rostral neuropore closure ( J:74666 )

• at E10.5, Type I mutants display failure of neural fold elevation and dorsal fusion, and eversion of the neural tube in the hindbrain and midbrain region resulting in a "ruffled" head morphology

exencephaly ( J:74666 )

• at E10.5, Type I mutant embryos exhibit exencephaly

vision/eye

abnormal eye morphology ( J:74666 )

• at E10.5, Type I mutant embryos exhibit eye abnormalities

cellular

abnormal cell adhesion ( J:74666 )

• Type I mutant embryos display a rough surface, consistent with increased friability, suggesting defects in cell adhesion and/or membrane structure

• no Type II embryos remain intact through the fixation process

increased apoptosis ( J:74666 )

• at E11.5, Type I mutant embryos exhibit increased apoptosis in the fronto-nasal region and the apical epidermal ridges of the limb bud

muscle

abnormal myocardium layer morphology ( J:74666 )

• at E11.5, some Type I mutant embryos exhibit a thinner myocardial wall while others display a thickened myocardial wall

absent trabeculae carneae ( J:74666 )

• at E11.5, Type I mutant hearts show a notable reduction in the development of ventricular trabeculae

Genotype
MGI:3618815

ht3

• Allelic Composition: Por^tm1Cbk/Por⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:74666 )

• heterozygotes are detected at a reduced Mendelian frequency at late gestational stages (E14.5-E18.5), indicating some embryonic loss

postnatal lethality, incomplete penetrance ( J:74666 )

• at 2 weeks, heterozygotes are obtained at a reduced frequency of 56% vs the 67% expected for a 1:2 wild-type:heterozygote ratio