All Phenotypes Tcf21<tm1Jrt> MGI Mouse

neonatal lethality, complete penetrance ( J:55785 )

• homozygotes die within minutes of birth of respiratory failure

abnormal kidney vasculature morphology ( J:55785 )

• surface vasculature of kidneys is abnormal at birth

abnormal peritubular capillary morphology ( J:55785 )

• at P0, capillaries are dilated and are not in close apposition to tubules

abnormal podocyte morphology ( J:55785 )

• podocytes fail to undergo terminal differentiation and remain columnar shaped, unlike in wild-type controls

abnormal podocyte foot process morphology ( J:55785 )

• only a few foot processes develop and do not line glomerular basement membrane

abnormal renal glomerulus morphology ( J:55785 )

• fully differentiated glomeruli are absent

• only capillary-loop stage glomeruli can be identified

abnormal glomerular capillary morphology ( J:55785 )

• the complexity of capillary looping is reduced, indicating a block in glomerular differentiation

decreased renal glomerulus number ( J:55785 )

• at P0, the number of capillary loop glomeruli is reduced

abnormal kidney development ( J:55785 )

• arrest in segmental tubular differentiation

abnormal kidney mesenchyme morphology ( J:55785 )

• at E14.5, an increased amount of condensing mesenchyme surrounds the ureteric bud tips

• at E15.5, up to 15 cell layers of condensing mesenchyme are identified around ureteric bud tips relative to 2-3 layers in wild-type controls

delayed kidney development ( J:55785 )

• conversion of condensing mesenchyme into tubular structures of the nephron is delayed with no S-shaped bodies or capillary-loop stage glomeruli identified at E14.5, unlike in wild-type controls

abnormal kidney medulla morphology ( J:55785 )

small kidney ( J:55785 )

renal hypoplasia ( J:55785 )

• at P0, kidneys are severely hypoplastic

decreased nephron number ( J:55785 )

• at P0, the number of nephrons is reduced

abnormal proximal convoluted tubule morphology ( J:55785 )

• at P0, developing tubules are present but no differentiated proximal tubules can be identified

absent proximal convoluted tubule brush border ( J:55785 )

• brush border fails to develop

abnormal ureteric bud morphology ( J:55785 )

• at E15.5, increased amount of condensing mesenchyme surrounds ureteric bud

abnormal branching involved in ureteric bud morphogenesis ( J:55785 )

• at P0, ureteric branches are crowded together and UB tips can be identified in the medulla, indicating a defect in the branch pattern

impaired branching involved in ureteric bud morphogenesis ( J:55785 )

• at E14.5, the number of ureteric bud branches is reduced relative to that in wild-type controls

• reduction in ureteric branching is more pronounced by E17.5

abnormal ureteric bud tip morphology ( J:55785 )

• at E13.5, ureteric branch tips occur anomalously in the medulla

• at P0, the number of ureteric branch tips at the periphery is reduced by 61%

abnormal lung vasculature morphology ( J:55785 )

• at birth, surface vasculature of lungs is abnormal

• at P0, capillaries are dilated and are not in direct apposition to airways

impaired branching involved in bronchus morphogenesis ( J:55785 )

• at E14.5, a 57% reduction in the total number of primordial tubules (segmental bronchi) is observed

abnormal lung epithelium morphology ( J:55785 )

• at P0, an absolute increase in bronchiolar epithelium indicates a defect in epithelial cell fate specification/differentiation

• numbers of proximal versus distal cell types are significantly greater than in wild-type, indicating impaired proximodistal differentiation of the airway epithelium

absent type II pneumocytes ( J:55785 )

• at P0, SP-C expression is detected only in the periphery, indicating an absence of type II pneumocytes within the interior of mutant lungs

small lung lobe ( J:55785 )

• at P0, the total size of left lobe is severely reduced

small lung ( J:55785 )

• at P0, lungs are much smaller than normal

pulmonary hypoplasia ( J:55785 )

• at P0, lungs are severely hypoplastic

abnormal pulmonary acinus morphology ( J:55785 )

• although bronchiolar tubules are present, no acinar tubules, terminal air sacs or primitive alveolar structures are identified at P0

abnormal pulmonary alveolar sac morphology ( J:55785 )

• at P0, air sacs are absent

impaired branching involved in alveolar sac morphogenesis ( J:55785 )

absent pulmonary alveoli ( J:55785 )

dilated respiratory conducting tube ( J:55785 )

• at P0, lungs display dilated immature airways

respiratory distress ( J:55785 )

• newborns take only a few agonal breaths prior to death

respiratory failure ( J:55785 )

abnormal ovary morphology ( J:92051 )

• gonads irregularly shaped but of normal size

• at E12.5 gonad histology appeared normal but lacked a distinct mesenchymal zone

abnormal ovary topology ( J:92051 )

• variable location of the ovaries

ectopic ovary ( J:92051 )

• at E18.5, the right ovary is located either adjacent to or just below the kidney, whereas the left ovary is always found adjacent to the kidney, usually still connected to the adrenal gland

disorganized testis cords ( J:92051 )

• no organized testicular cords are found at E12.5

small gonad ( J:92051 )

• gonads smaller than expected, irregularly shaped and located in female

• positioned under the kidney

sex reversal ( J:92051 )

• detected at birth by female anal to genital distance in XY mice

primary sex reversal ( J:92051 )

• at E12.5 gonad histology is abnormal

• coelomic epithelium is irregular and invaginated

• basal lamina interrupted

• vascular networks extend through the gonad interior to the coelomic epithelium

secondary sex reversal ( J:92051 )

• male internal genitalia poorly developed and appeared similar to females