Phenotypes associated with this allele

• Allele Symbol: Ldb1^tm1Lmgd
• Allele Name: targeted mutation 1, Laboratory of Mammalian Genes and Development, Heiner Westphal
• Allele ID: MGI:2449177
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ldb1^tm1Lmgd/Ldb1^tm1Lmgd	involves: CD-1	MGI:3582616
ht2	Ldb1^tm1Lmgd/Ldb1^+	involves: C3H/He * C57BL/6	MGI:3663944
cn3	Ldb1^tm1Lmgd/Ldb1^tm2Lmgd H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:6460330
cx4	Ldb1^tm1Lmgd/Ldb1^+ Ssbp3^Tg(SOD1)1Hssk/Ssbp3^+	involves: C3H/He * C57BL/6	MGI:3663943

Genotype
MGI:3582616

hm1

• Allelic Composition: Ldb1^tm1Lmgd/Ldb1^tm1Lmgd
• Genetic Background: involves: CD-1

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

mortality/aging

embryonic lethality, complete penetrance ( J:81152 )

• embryos die between E9.5 and E10

• developmental arrest at E8.5

embryo

rostral body truncation ( J:81152 )

• anterior truncation at E8.5

• structures anterior to otic vesicle missing

rostral-caudal axis duplication ( J:81152 )

• trunk duplication in about 40% of mutants

embryonic growth arrest ( J:81152 )

• developmental arrest at E8.5

decreased embryo size ( J:81152 )

• embryonic portion is smaller than in controls

abnormal neural plate morphology ( J:81152 )

• anterior termination of the embryo is in a convoluted neural plate structure

abnormal rhombomere 3 morphology ( J:81152 )

• the region of expression of Krox20, a hindbrain marker that marks rhombomeres r3 and r5, is abnomal in mutant embryos

• partial duplication of rhombomere 3

abnormal rhombomere 5 morphology ( J:81152 )

• partial duplication of rhombomere 5

kinked neural tube ( J:81152 )

• neural tube with kinky and compressed shape

split notochord ( J:81152 )

• duplicated primitive streak and notochord formations are seen in E8.5 mutant embryos as detected by T expression

abnormal primitive streak morphology ( J:81152 )

• duplicated primitive streak and notochord formations are seen in E8.5 mutant embryos as detected by T expression

abnormal primitive streak formation ( J:81152 )

• normal anteriorly but often duplicated posteriorly

fused somites ( J:81152 )

• columns of somites often fused medially

increased somite number ( J:81152 )

• multiple rows of somites

embryonic-extraembryonic boundary constriction ( J:81152 )

• gastrulating embryos show constriction at the embryonic-extraembryonic junction

abnormal extraembryonic tissue morphology ( J:81152 )

abnormal allantois morphology ( J:81152 )

• defective allantois

• if present, detached from wall of exocoelomic cavity

• posteriorly displaced and lost contact with amnion

absent allantois ( J:81152 )

• frequently

abnormal visceral yolk sac morphology ( J:81152 )

• fails to expand around fetus, much of anterior embryo develops outside of yolk sac

absent visceral yolk sac blood islands ( J:81152 )

failure of chorioallantoic fusion ( J:81152 )

• where present, allantois grows toward chorion but fails to make contact

cardiovascular system

abnormal heart morphology ( J:81152 )

• absence of heart mesoderm

absent heart ( J:81152 )

• no heart formation

nervous system

abnormal neural plate morphology ( J:81152 )

• anterior termination of the embryo is in a convoluted neural plate structure

abnormal rhombomere 3 morphology ( J:81152 )

• the region of expression of Krox20, a hindbrain marker that marks rhombomeres r3 and r5, is abnomal in mutant embryos

• partial duplication of rhombomere 3

abnormal rhombomere 5 morphology ( J:81152 )

• partial duplication of rhombomere 5

kinked neural tube ( J:81152 )

• neural tube with kinky and compressed shape

absent midbrain-hindbrain boundary ( J:81152 )

• En2 expression that marks the midbrain-hindbrain boundary of wild-type embryos is absent in the mutant

craniofacial

abnormal craniofacial morphology ( J:81152 )

• absence of craniofacial mesoderm

digestive/alimentary system

abnormal foregut morphology ( J:81152 )

• loss of foregut indentation at E8.5

hematopoietic system

abnormal hematopoietic system morphology/development ( J:81152 )

• no hematopoietic development

reproductive system

abnormal primordial germ cell morphology ( J:81152 )

• development of primordial germ cells is defective

growth/size/body

decreased embryo size ( J:81152 )

• embryonic portion is smaller than in controls

cellular

abnormal primordial germ cell morphology ( J:81152 )

• development of primordial germ cells is defective

Genotype
MGI:3663944

ht2

• Allelic Composition: Ldb1^tm1Lmgd/Ldb1⁺
• Genetic Background: involves: C3H/He * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:98485 )

• some single heterozygotes from intercrosses with Ssbp3^{Tg(SOD1)1Hssk}/+ mice display mild growth retardation and mild microcephaly at E9.0-9.5

Genotype
MGI:6460330

cn3

• Allelic Composition: Ldb1^tm1Lmgd/Ldb1^tm2Lmgd; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:208345 )

• mice die shortly after birth

craniofacial

craniofacial phenotype ( J:208345 )

N • face development is grossly unaffected; neural crest-derived cells show normal distribution in all facial primordia at E10.5

abnormal diastema morphology ( J:208345 )

• appearance of diastema teeth on the upper jaw

decreased molar number ( J:208345 )

• a loss of molars is observed in the upper jaw

arrest of tooth development ( J:208345 )

• lower molars are developmentally arrested

abnormal palatal mesenchymal cell proliferation ( J:208345 )

• at E13.5, a small localized decrease in mesenchymal cell proliferation is seen in the medial area of the anterior palate

• however, palatal mesenchyme shows no significant differences in apoptosis relative to controls

abnormal palatal shelf morphology ( J:208345 )

• starting at E13.5, the palatal shelf has an abnormal shape being more blunt and wider at the bottom; this is more pronounced in the anterior and middle levels than in the posterior level

• however, no adhesion between the palatal shelf and the tongue or oral epithelium is observed

decreased palatal shelf size ( J:208345 )

• starting at E14.5, the palatal shelves are smaller in the anterior and posterior palate

cleft secondary palate ( J:208345 )

• all mice exhibit fully cleft secondary palate at birth

abnormal palatal shelf elevation ( J:208345 )

• at E14.5, the middle palate and the posterior palate remain vertical, whereas the anterior palate is normally elevated above the tongue

• at E18.5, the posterior palate fails to elevate above the tongue, whereas the middle palate appears to have initiated re-orientation as shown by the presence of a protrusion on the medial side of the palatal shelf

• expression of Wnt5a, Pax9 and Osr2, which regulate palatal shelf elevation, is altered

• defect in middle/posterior palatal shelf elevation is not due to mechanical hindrance by the tongue

abnormal tongue position ( J:208345 )

• at E14.5 and E18.5, the tongue is abnormally tall

• however, in vitro head culture assays show that the defect in middle/posterior palatal shelf elevation is not due to interference by the tongue

growth/size/body

decreased molar number ( J:208345 )

• a loss of molars is observed in the upper jaw

arrest of tooth development ( J:208345 )

• lower molars are developmentally arrested

abnormal palatal mesenchymal cell proliferation ( J:208345 )

• at E13.5, a small localized decrease in mesenchymal cell proliferation is seen in the medial area of the anterior palate

• however, palatal mesenchyme shows no significant differences in apoptosis relative to controls

abnormal palatal shelf morphology ( J:208345 )

• starting at E13.5, the palatal shelf has an abnormal shape being more blunt and wider at the bottom; this is more pronounced in the anterior and middle levels than in the posterior level

• however, no adhesion between the palatal shelf and the tongue or oral epithelium is observed

decreased palatal shelf size ( J:208345 )

• starting at E14.5, the palatal shelves are smaller in the anterior and posterior palate

cleft secondary palate ( J:208345 )

• all mice exhibit fully cleft secondary palate at birth

abnormal palatal shelf elevation ( J:208345 )

• at E14.5, the middle palate and the posterior palate remain vertical, whereas the anterior palate is normally elevated above the tongue

• at E18.5, the posterior palate fails to elevate above the tongue, whereas the middle palate appears to have initiated re-orientation as shown by the presence of a protrusion on the medial side of the palatal shelf

• expression of Wnt5a, Pax9 and Osr2, which regulate palatal shelf elevation, is altered

• defect in middle/posterior palatal shelf elevation is not due to mechanical hindrance by the tongue

abnormal tongue position ( J:208345 )

• at E14.5 and E18.5, the tongue is abnormally tall

• however, in vitro head culture assays show that the defect in middle/posterior palatal shelf elevation is not due to interference by the tongue

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:208345 )

• at E13.5, a small localized decrease in mesenchymal cell proliferation is seen in the medial area of the anterior palate

• however, palatal mesenchyme shows no significant differences in apoptosis relative to controls

abnormal palatal shelf morphology ( J:208345 )

• starting at E13.5, the palatal shelf has an abnormal shape being more blunt and wider at the bottom; this is more pronounced in the anterior and middle levels than in the posterior level

• however, no adhesion between the palatal shelf and the tongue or oral epithelium is observed

decreased palatal shelf size ( J:208345 )

• starting at E14.5, the palatal shelves are smaller in the anterior and posterior palate

cleft secondary palate ( J:208345 )

• all mice exhibit fully cleft secondary palate at birth

abnormal palatal shelf elevation ( J:208345 )

• at E14.5, the middle palate and the posterior palate remain vertical, whereas the anterior palate is normally elevated above the tongue

• at E18.5, the posterior palate fails to elevate above the tongue, whereas the middle palate appears to have initiated re-orientation as shown by the presence of a protrusion on the medial side of the palatal shelf

• expression of Wnt5a, Pax9 and Osr2, which regulate palatal shelf elevation, is altered

• defect in middle/posterior palatal shelf elevation is not due to mechanical hindrance by the tongue

abnormal tongue position ( J:208345 )

• at E14.5 and E18.5, the tongue is abnormally tall

• however, in vitro head culture assays show that the defect in middle/posterior palatal shelf elevation is not due to interference by the tongue

skeleton

abnormal diastema morphology ( J:208345 )

• appearance of diastema teeth on the upper jaw

decreased molar number ( J:208345 )

• a loss of molars is observed in the upper jaw

arrest of tooth development ( J:208345 )

• lower molars are developmentally arrested

Genotype
MGI:3663943

cx4

• Allelic Composition: Ldb1^tm1Lmgd/Ldb1⁺; Ssbp3^{Tg(SOD1)1Hssk}/Ssbp3⁺
• Genetic Background: involves: C3H/He * C57BL/6

growth/size/body

embryonic growth retardation ( J:98485 )

• some double heterozygotes show varying degrees of growth retardation

microcephaly ( J:98485 )

• some double heterozygotes display varying degrees of microcephaly

embryo

embryonic growth retardation ( J:98485 )

• some double heterozygotes show varying degrees of growth retardation