Phenotypes associated with this allele

• Allele Symbol: Foxa1^tm1Gsc
• Allele Name: targeted mutation 1, Gunther Schutz
• Allele ID: MGI:2653543
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxa1^tm1Gsc/Foxa1^tm1Gsc	involves: 129P2/OlaHsd	MGI:3527208
hm2	Foxa1^tm1Gsc/Foxa1^tm1Gsc	involves: 129P2/OlaHsd * C57BL/6	MGI:3032459
ht3	Foxa1^tm1Gsc/Foxa1^+	involves: 129P2/OlaHsd	MGI:4461462

Genotype
MGI:3527208

hm1

• Allelic Composition: Foxa1^tm1Gsc/Foxa1^tm1Gsc
• Genetic Background: involves: 129P2/OlaHsd

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

endocrine/exocrine glands

abnormal branching of the mammary ductal tree ( J:161401 )

♀ • no (0/5) detectable outgrowths at 5 weeks after orthotopic transplantation of mammary anlagen collected from E14 embryos vs 50% (3/6) of the wild-type anlagen

♀ • 0% (0/9) of the mutant anlagen vs 59% (10/17) of the wild-type form mammary ductal outgrowths at 8 weeks post-transplant

♀ • when exposed to pregnancy-associated hormones, all the mutant mammary anlagen fail (0/9) to develop, whereas 71% (5/7) of the wild-type anlagen form outgrowths with extensive alveoli

♀ • no puberty-associated mammary morphogenesis (TEBs) at 2 weeks and 4-5 weeks after renal capsule grafting of postnatal day 1 glands

integument

abnormal branching of the mammary ductal tree ( J:161401 )

♀ • no (0/5) detectable outgrowths at 5 weeks after orthotopic transplantation of mammary anlagen collected from E14 embryos vs 50% (3/6) of the wild-type anlagen

♀ • 0% (0/9) of the mutant anlagen vs 59% (10/17) of the wild-type form mammary ductal outgrowths at 8 weeks post-transplant

♀ • when exposed to pregnancy-associated hormones, all the mutant mammary anlagen fail (0/9) to develop, whereas 71% (5/7) of the wild-type anlagen form outgrowths with extensive alveoli

♀ • no puberty-associated mammary morphogenesis (TEBs) at 2 weeks and 4-5 weeks after renal capsule grafting of postnatal day 1 glands

Genotype
MGI:3032459

hm2

• Allelic Composition: Foxa1^tm1Gsc/Foxa1^tm1Gsc
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:53312 )

• mice died at 10-14 days of age

endocrine/exocrine glands

abnormal adrenal gland secretion ( J:53312 )

• elevated serum levels of corticosterone

growth/size/body

postnatal growth retardation ( J:53312 )

• maximum body weight was attained between 8 and 10 days of age

homeostasis/metabolism

hypoglycemia ( J:53312 )

• mice died of severe hypoglycemia and dehydration, and did not respond to glucose injections

decreased circulating glucagon level ( J:53312 )

• a decrease in circulating glucagon levels accompanied the hypoglycemia

abnormal circulating insulin level ( J:53312 )

• decreased levels of plasma insulin

Genotype
MGI:4461462

ht3

• Allelic Composition: Foxa1^tm1Gsc/Foxa1⁺
• Genetic Background: involves: 129P2/OlaHsd

endocrine/exocrine glands

abnormal branching of the mammary ductal tree ( J:161401 )

♀ • significant decrease in ductal invasion at both mid-puberty (5 weeks) and late puberty (7 weeks)

♀ • ovariectomy and estradiol plus progesterone replacement do not rescue the defect

increased mammary gland apoptosis ( J:161401 )

♀ • increased epithelial apoptosis in mammary glands from 5-week-old mice

♀ • normal proliferation

integument

abnormal branching of the mammary ductal tree ( J:161401 )

♀ • significant decrease in ductal invasion at both mid-puberty (5 weeks) and late puberty (7 weeks)

♀ • ovariectomy and estradiol plus progesterone replacement do not rescue the defect

increased mammary gland apoptosis ( J:161401 )

♀ • increased epithelial apoptosis in mammary glands from 5-week-old mice

♀ • normal proliferation