Phenotypes Associated with This Genotype

Genotype
MGI:3708884

• Allelic Composition: Lrp4^mte/Lrp4^mte
• Genetic Background: involves: C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:119654 )

• mice die at birth

nervous system

abnormal neuromuscular synapse morphology ( J:119654 )

• at E14.5 acetylcholine receptor clustering is absent in the diaphragm prior to innervation

• at E18.5, there is no clustering of acetylcholine receptors in diaphragm, intercostal or limbs muscles

• cultured myotubes lack clustering of acetylcholine receptors even when stimulated with Agrin

failure of neuromuscular synapse postsynaptic differentiation ( J:119654 )

• in E18.5 mice, Musk, Chrna and Chrnd are expressed at low levels but fail to localize to the endplate region

• in E18.5 mice, Rapsn fails to localize to postsynaptic regions

failure of neuromuscular synapse presynaptic differentiation ( J:119654 )

• motor axons fail to stop adjacent to the main intramuscular nerve but instead grow across the muscle

abnormal phrenic nerve morphology ( J:119654 )

• at E18.5, the phrenic nerve displays extensive branching that does not stop at the endplate

behavior/neurological

no spontaneous movement ( J:119654 )

• no embryonic or perinatal movements are detected

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:119654 )

• expansion of the apical ectodermal rigid (AER) along the dorsoventral axis

• failure of AER refinement and maturation results in absence of a morphologically distinct AER

brachypodia ( J:119654 )

• shortening of the autopod elements

abnormal digit morphology ( J:119654 )

• delays in ossification of digits at E18.5

ectopic digits ( J:119654 )

• ectopic phalanges or digits dorsal to the normal plane of the hand

oligodactyly ( J:119654 )

• reduction in the number of digits

syndactyly ( J:119654 )

• fusion of the central digits

fused metacarpal bones ( J:119654 )

fused metatarsal bones ( J:119654 )

skeleton

abnormal tooth development ( J:119654 )

• abnormal tooth primordia

fused metacarpal bones ( J:119654 )

fused metatarsal bones ( J:119654 )

respiratory system

small lung ( J:119654 )

• in later stages of embryonic development lungs are 50% to 75% smaller than wild-type littermates

• however, primary and secondary branching appear normal and no defects in cell proliferation, death or differentiation are detected

atelectasis ( J:119654 )

• failure to expand the lungs

respiratory failure ( J:119654 )

• at birth mice do not breath

homeostasis/metabolism

cyanosis ( J:119654 )

• at birth

renal/urinary system

absent kidney ( J:119654 )

• most mice exhibit unilateral or bilateral kidney agenesis

single kidney ( J:119654 )

• most mice exhibit unilateral or bilateral kidney agenesis

embryo

abnormal apical ectodermal ridge morphology ( J:119654 )

• expansion of the apical ectodermal rigid (AER) along the dorsoventral axis

• failure of AER refinement and maturation results in absence of a morphologically distinct AER

craniofacial

abnormal tooth development ( J:119654 )

• abnormal tooth primordia

endocrine/exocrine glands

abnormal mammary gland bud morphology ( J:119654 )

♀ • abnormal mammary buds

integument

abnormal mammary gland bud morphology ( J:119654 )

♀ • abnormal mammary buds

abnormal hair follicle development ( J:119654 )

abnormal vibrissa morphology ( J:119654 )

• abnormal whisker vibrissae

growth/size/body

abnormal tooth development ( J:119654 )

• abnormal tooth primordia