Phenotypes associated with this allele

• Allele Symbol: Fermt1^tm1Ref
• Allele Name: targeted mutation 1, Reinhard Fassler
• Allele ID: MGI:3828498
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fermt1^tm1Ref/Fermt1^tm1Ref	involves: 129S1/Sv * 129X1/SvJ	MGI:3828513

Genotype
MGI:3828513

hm1

• Allelic Composition: Fermt1^tm1Ref/Fermt1^tm1Ref
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:142913 )

• mice die between P3 and P5

digestive/alimentary system

abnormal intestine morphology ( J:142913 )

• after birth, intestines are swollen and filled with milk and gas

abnormal colon morphology ( J:142913 )

• mice exhibit a short colon that is not a consequence of increased apoptosis in attached epithelium or decreased intestinal epithelial cell proliferation

• within the first hours after birth, nursed mice exhibit colostrums in the intestinal lumen and display extensive epithelial cell detachment

• at P3, more than 80% of the colonic epithelium is detached and infiltrated by macrophages, granulocytes and T cells

• however, colon basement membrane composition at P1 is normal, and unfed mice delivered by Caesarean do not exhibit epithelial detachment

abnormal ileum morphology ( J:142913 )

• at P2, the terminal ileum is shortened and swollen unlike in wild-type mice

distended ileum ( J:142913 )

• at P2

distended stomach ( J:142913 )

• after birth, intestines are swollen and filled with milk and gas

large intestinal inflammation ( J:142913 )

• 12 hours after birth, inflammatory infiltrates are observed in the detached epithelium and underlying mesenchyme of fed mice, and the amount of infiltrate increases with time

• at P2, the colon is shortened and swollen with strictures evident in the distal colon

ileum inflammation ( J:142913 )

• the ileum exhibits inflammation likely due to washed back stool

• however, no detachment of epithelium is observed in the ileum

renal/urinary system

renal/urinary system phenotype ( J:142913 )

N • despite proteinuria and increased urine osmolality, glomeruli and tubular system morphology are normal

increased urine osmolality ( J:142913 )

increased urine protein level ( J:142913 )

homeostasis/metabolism

dehydration ( J:142913 )

• at P2

increased urine osmolality ( J:142913 )

increased urine protein level ( J:142913 )

growth/size/body

postnatal growth retardation ( J:142913 )

• after birth, mice fail to thrive

immune system

large intestinal inflammation ( J:142913 )

• 12 hours after birth, inflammatory infiltrates are observed in the detached epithelium and underlying mesenchyme of fed mice, and the amount of infiltrate increases with time

• at P2, the colon is shortened and swollen with strictures evident in the distal colon

ileum inflammation ( J:142913 )

• the ileum exhibits inflammation likely due to washed back stool

• however, no detachment of epithelium is observed in the ileum

integument

decreased keratinocyte adhesion ( J:142913 )

• mutant keratinocytes display severe adhesion and spreading defects in culture unlike wild-type cells

• however, adhesion of basal keratinocytes to the basement membrane is normal in vivo

decreased keratinocyte proliferation ( J:142913 )

• keratinocyte proliferation is decreased compared to in wild-type mice

thin epidermis ( J:142913 )

• at P1

skin atrophy ( J:142913 )

• mice exhibit skin atrophy

cellular

decreased keratinocyte adhesion ( J:142913 )

• mutant keratinocytes display severe adhesion and spreading defects in culture unlike wild-type cells

• however, adhesion of basal keratinocytes to the basement membrane is normal in vivo

decreased keratinocyte proliferation ( J:142913 )

• keratinocyte proliferation is decreased compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kindler syndrome		DOID:0060472	OMIM:173650	J:142913