Phenotypes associated with this allele

• Allele Symbol: Serpinf1^tm1Craw
• Allele Name: targeted mutation 1, Susan E Crawford
• Allele ID: MGI:2664515
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Serpinf1^tm1Craw/Serpinf1^tm1Craw	involves: 129X1/SvJ * C57BL/6J	MGI:2664516
hm2	Serpinf1^tm1Craw/Serpinf1^tm1Craw	Not Specified	MGI:5758948
ht3	Serpinf1^tm1Craw/Serpinf1^+	involves: 129X1/SvJ * C57BL/6J	MGI:3848704

Genotype
MGI:2664516

hm1

• Allelic Composition: Serpinf1^tm1Craw/Serpinf1^tm1Craw
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

endocrine/exocrine glands

abnormal prostate gland morphology ( J:83748 )

♂ • at 3 months of age, mutant prostates display a 3.2-fold increase in stromal microvasculature density relative to wild-type prostates

♂ • mutant prostatic vessels appear more muscular, as revealed by immunostaining for smooth muscle actin; occasional intraglandular vessels are also observed

prostate gland epithelial hyperplasia ( J:83748 )

♂ • at 3 months of age, homozygotes display prostatic hyperplasia with stratification of the nuclei

♂ • the number of PCNA-positive epithelial cells is significantly increased in mutant prostate glands

♂ • however, no significant alterations in serum testosterone levels are observed

abnormal pancreas morphology ( J:83748 )

• at 3 months of age, mutant pancreatic blood vessels are significantly increased in number, dilated, and display thickened media, as revealed by immunostaining for smooth muscle actin

abnormal exocrine pancreas morphology ( J:83748 )

• at 3 months of age, mutant exocrine glands are more adundant relative to wild-type glands

• a paucity of lumen is observed in PCNA-stained tissue sections

abnormal pancreatic acinar cell morphology ( J:83748 )

• at 3 months of age, mutant acinar epithelial cells appear poorly differentiated and display increased nuclear-to-cytoplasmic ratios and cytologic atypia

enlarged pancreas ( J:83748 )

• at 3 months of age, the mutant pancreas is enlarged, extending well beyond the midline

exocrine pancreas hyperplasia ( J:83748 )

• at 3 months of age, homozygotes exhibit pancreatic epithelial cell hyperplasia

• a 3.8-fold increase in PCNA-positive epithelial cells is observed in mutant pancreatic tissue

cardiovascular system

abnormal retina vasculature morphology ( J:83748 )

• at 3 months of age, homozygotes display abnormally positioned retinal vessels and increased microvessel density

increased angiogenesis ( J:83748 )

• at 3 months of age, homozygotes display increased microvasculature density within the stroma of the retina, kidney, pancreas and prostate

digestive/alimentary system

abnormal exocrine pancreas morphology ( J:83748 )

• at 3 months of age, mutant exocrine glands are more adundant relative to wild-type glands

• a paucity of lumen is observed in PCNA-stained tissue sections

abnormal pancreatic acinar cell morphology ( J:83748 )

• at 3 months of age, mutant acinar epithelial cells appear poorly differentiated and display increased nuclear-to-cytoplasmic ratios and cytologic atypia

exocrine pancreas hyperplasia ( J:83748 )

• at 3 months of age, homozygotes exhibit pancreatic epithelial cell hyperplasia

• a 3.8-fold increase in PCNA-positive epithelial cells is observed in mutant pancreatic tissue

reproductive system

abnormal prostate gland morphology ( J:83748 )

♂ • at 3 months of age, mutant prostates display a 3.2-fold increase in stromal microvasculature density relative to wild-type prostates

♂ • mutant prostatic vessels appear more muscular, as revealed by immunostaining for smooth muscle actin; occasional intraglandular vessels are also observed

prostate gland epithelial hyperplasia ( J:83748 )

♂ • at 3 months of age, homozygotes display prostatic hyperplasia with stratification of the nuclei

♂ • the number of PCNA-positive epithelial cells is significantly increased in mutant prostate glands

♂ • however, no significant alterations in serum testosterone levels are observed

vision/eye

abnormal retina vasculature morphology ( J:83748 )

• at 3 months of age, homozygotes display abnormally positioned retinal vessels and increased microvessel density

decreased retina ganglion cell number ( J:83748 )

• at 3 months of age, homozygotes display a decreased number of retinal ganglion cells

abnormal retina pigmentation ( J:83748 )

• at 3 months of age, homozygotes exhibit abnormal retinal pigmentation

nervous system

decreased retina ganglion cell number ( J:83748 )

• at 3 months of age, homozygotes display a decreased number of retinal ganglion cells

pigmentation

abnormal retina pigmentation ( J:83748 )

• at 3 months of age, homozygotes exhibit abnormal retinal pigmentation

growth/size/body

enlarged pancreas ( J:83748 )

• at 3 months of age, the mutant pancreas is enlarged, extending well beyond the midline

exocrine pancreas hyperplasia ( J:83748 )

• at 3 months of age, homozygotes exhibit pancreatic epithelial cell hyperplasia

• a 3.8-fold increase in PCNA-positive epithelial cells is observed in mutant pancreatic tissue

Genotype
MGI:5758948

hm2

• Allelic Composition: Serpinf1^tm1Craw/Serpinf1^tm1Craw
• Genetic Background: Not Specified

skeleton

decreased trabecular bone volume ( J:230409 )

• reduction in trabecular bone volume fraction at 12 weeks of age

decreased bone trabecula number ( J:230409 )

• reduction in trabecular numbers at 12 weeks of age

increased osteoid thickness ( J:230409 )

• increase in osteoid thickness and osteoid maturation time in 6 week old mice, suggesting of a defect in the mineralization process

abnormal bone mineralization ( J:230409 )

• increase in the mineral:matrix ratio, indicating an accumulation of unmineralized bone matrix

• matrix mineralization is increased in osteoblast cultures

decreased bone strength ( J:230409 )

• assessment of cortical bone strength suggests that bones re more brittle at 12 weeks of age, with ultimate displacement and energy to failure reduced in bones

• however, parameters of cortical bone structure are not affected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 6		DOID:0110350	OMIM:613982	J:230409

Genotype
MGI:3848704

ht3

• Allelic Composition: Serpinf1^tm1Craw/Serpinf1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

endocrine/exocrine glands

abnormal prostate gland morphology ( J:83748 )

♂ • at 3 months of age, heterozygous mutant prostates display a 1.9-fold increase in stromal microvasculature density relative to wild-type prostates

prostate gland epithelial hyperplasia ( J:83748 )

♂ • at 3 months of age, heterozygotes display a less pronounced prostate epithelial hyperplasia relative to homozygous mutant mice, athough the number of PCNA-positive epithelial cells is significantly higher than that observed in wild-type prostate tissues

♂ • by 6 months of age, heterozygotes display moderate nuclear pleiomorphism and hyperchromatic nuclei, indicating a progressive phenotype

reproductive system

abnormal prostate gland morphology ( J:83748 )

♂ • at 3 months of age, heterozygous mutant prostates display a 1.9-fold increase in stromal microvasculature density relative to wild-type prostates

prostate gland epithelial hyperplasia ( J:83748 )

♂ • at 3 months of age, heterozygotes display a less pronounced prostate epithelial hyperplasia relative to homozygous mutant mice, athough the number of PCNA-positive epithelial cells is significantly higher than that observed in wild-type prostate tissues

♂ • by 6 months of age, heterozygotes display moderate nuclear pleiomorphism and hyperchromatic nuclei, indicating a progressive phenotype