Phenotypes for Fgfrl1 MGI:3771865 MGI Mouse

neonatal lethality, complete penetrance ( J:130254 )

• all mice die within 1 hour of birth

• lifespan can be increased to up to 5 hours when mice are treated with a slight stream of oxygen

abnormal diaphragm development ( J:130254 )

• portions of the diaphragm are amusculated

• innervation of the diaphragm is normal

diaphragmatic hernia ( J:130254 )

• mice exhibit a slight herniation in the diaphragm with a small protrusion of the liver into the thoracic cavity

thin diaphragm muscle ( J:130254 , J:218981 )

• the thickness of costal diaphragm muscles is less than 60% of wild-type and is due to a reduction in the number of muscle cells (J:130254)

• however, the size of muscle cells in the diaphragm is normal (J:130254)

• at E18.5, diaphragms are smaller and significantly thinner than normal (J:218981)

muscle hypoplasia ( J:130254 )

• the thickness of costal diaphragm muscles is less than 60% of wild-type and is due to a reduction in the number of muscle cells

• the width of the crura is 62% of wild-type and a gap between the costal and crural muscles is present unlike in wild-type mice

• however, the musculature of the forelimb and hindlimb are normal

respiratory system phenotype ( J:130254 )

N	• lung morphology and innervation of the diaphragm are normal

respiratory distress ( J:130254 )

• at birth, mice gasp for air and lack regular breathing movements

homeostasis/metabolism phenotype ( J:218981 )

N	• contrary to expectation, production of insulin by pancreatic beta-cells is normal at E18.5 • no signs of hyperglycemia are observed

cyanosis ( J:130254 )

• mice become cyanotic shortly after birth

no spontaneous movement ( J:130254 )

skeleton phenotype ( J:130254 )

N	• no skeletal defects are observed despite endogenous expression of Fgfrl1 in the cartilage and bone

small cranium ( J:218981 )

• at E18.5, skulls are often smaller than normal

abnormal neurocranium morphology ( J:218981 )

• at E18.5, the calvaria are hypomineralized

domed cranium ( J:153203 )

• dome shaped skull with a high front (subtle)

decreased length of long bones ( J:218981 )

• at E18.5, the long bones are frequently shorter than normal

increased kidney apoptosis ( J:153202 )

• at E14.5, a marked increase in apoptosis is noted in mesenchymal cells of the cortical nephrogenic zone, as shown by TUNEL staining

decreased kidney cell proliferation ( J:153202 )

• severely reduced proliferation of nephrogenic mesenchymal cells, as shown by BrdU incorporation in organ cultures

abnormal kidney development ( J:153202 )

• only a small rudimentary structure is attached to the ureter at E18.5

• whole kidney organ cultures reveal severely reduced and uncoordinated ureteric branching and a lack of mesenchymal condensation, pretubular aggregation and tubulogenesis

• uninduced metanephric mesenchyme is present at E12.5 but fails to initiate nephrogenesis

abnormal metanephric mesenchyme morphology ( J:153202 )

• at E12.5, less mesenchymal condensation is observed and renal vesicles are absent

• at E14.5, no epithelial structures have differentiated from the metanephric mesenchyme

abnormal nephrogenic mesenchyme morphogenesis ( J:153202 )

• lack of mesenchymal-to-epithelial transition in the nephrogenic mesenchyme

abnormal metanephros morphology ( J:153202 )

• all mice exhibit severe dysgenesis of both metanephric kidneys

absent metanephros ( J:153202 , J:218981 )

• absence of functional metanephroi (J:153202)

• absence of metanephric kidney development at E17.5 (J:218981)

absent nephron ( J:153202 )

• absence of nephrons at E18.5

absent kidney ( J:153202 )

• complete lack of kidneys

impaired branching involved in ureteric bud morphogenesis ( J:153202 )

• branching of ureter in metanephric mesenchyme is stalled by E14.5

• 3-4 rounds of ureter branching in culture as opposed to 6-7 rounds in controls