Phenotypes associated with this allele

• Allele Symbol: Cnbp^m1Hrb
• Allele Name: mutation 1, Klaus Harbers
• Allele ID: MGI:3640662
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cnbp^m1Hrb/Cnbp^m1Hrb	B6.129S4-Cnbp^m1Hrb	MGI:3640664
ht2	Cnbp^m1Hrb/Cnbp^+	B6.129S4-Cnbp^m1Hrb	MGI:3640665

Genotype
MGI:3640664

hm1

• Allelic Composition: Cnbp^m1Hrb/Cnbp^m1Hrb
• Genetic Background: B6.129S4-Cnbp^m1Hrb

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:81582 )

• homozygotes die around E10.5; no homozygous newborns are ever found

embryo

decreased embryonic tissue cell apoptosis ( J:81582 )

• at E7.5 and 8.5 there is minimal apoptosis compared to wild-type embryos

rostral body truncation ( J:81582 )

• at E9.5. truncations in the anterior regions of homozygous embryos are seen

decreased embryo size ( J:81582 )

• at E7.5 homozygotes are smaller than littermates

absent anterior definitive endoderm ( J:81582 )

• the anterior definitive endoderm is absent in mutants at E7.5

abnormal head fold morphology ( J:81582 )

• at E8.5 headfolds are reduced in size

abnormal cephalic neural fold morphology ( J:81582 )

• at early somite stages truncations in the anterior neural folds are observed

abnormal embryonic neuroepithelium morphology ( J:81582 )

• induction of anterior neuroectoderm fails to occur and is missing in mutant embryos

• mutants have less cell proliferation in the region of the anterior neuroectoderm

absent prechordal plate ( J:81582 )

• at E7.5 and 8.0, mutants lack prechordal plate

abnormal anterior visceral endoderm morphology ( J:81582 )

• the anterior visceral endoderm is mislocalized distally compared to wild-type embryos

• there is little proliferation observed at E6.0 in the anterior visceral endoderm of mutants

growth/size/body

decreased embryo size ( J:81582 )

• at E7.5 homozygotes are smaller than littermates

cellular

decreased embryonic tissue cell apoptosis ( J:81582 )

• at E7.5 and 8.5 there is minimal apoptosis compared to wild-type embryos

nervous system

abnormal embryonic neuroepithelium morphology ( J:81582 )

• induction of anterior neuroectoderm fails to occur and is missing in mutant embryos

• mutants have less cell proliferation in the region of the anterior neuroectoderm

decreased forebrain size ( J:81582 )

• at E10.5, homozygotes display a severe forebrain truncation

absent diencephalon ( J:81582 )

• the diencephalon is entirely absent at E8.0

absent telencephalon ( J:81582 )

• at E8.5 and E9.5, markers for telencephalon forebrain are absent in homozygotes

decreased embryonic neuroepithelial cell proliferation ( J:81582 )

• mutants have less cell proliferation in the region of the anterior neuroectoderm

Genotype
MGI:3640665

ht2

• Allelic Composition: Cnbp^m1Hrb/Cnbp⁺
• Genetic Background: B6.129S4-Cnbp^m1Hrb

mortality/aging

neonatal lethality, incomplete penetrance ( J:81582 )

• 40% of heterzygotes have multiple defects and die shortly after birth

growth/size/body

decreased embryo size ( J:81582 )

• 40% of heterzygotes are smaller than wild-type littermates

craniofacial

small mandible ( J:81582 )

• 40% of heterozygotes have small mandibles

vision/eye

anophthalmia ( J:81582 )

• 40% of heterozygotes display a complete lack of eyes

skeleton

small mandible ( J:81582 )

• 40% of heterozygotes have small mandibles

embryo

decreased embryo size ( J:81582 )

• 40% of heterzygotes are smaller than wild-type littermates