Mouse Genome Informatics
hm
    Tbx3tm1Pa/Tbx3tm1Pa
either: (involves: 129 * 129S1/Sv * 129X1/SvJ) or (involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6NTac)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• about 50% of homozygotes (17/35) die by E11.5; most homozygotes are dead by E12.5 (21/33)
• very few homozygotes survive beyond E13.5, rare exceptions (2/35) survive to about E16.5

embryogenesis
• 6 of 24 homozygotes show a reduction in yolk sac vasculature prior to E10.5
• 6 of 24 homozygotes exhibit small or absent yolk sac blood vessels prior to E10.5
• ~70% of homozygotes display reduced hindlimb bud development by E9.5-E10.5; however, no major abnormalities are detected at E8.5
• at E10.5, homozygotes exhibit a thinner and anteroposteriorly less extensive AER in the forelimbs, and a severely reduced AER in the hindlimbs
• by E12.5, yolk sacs of many surviving homozygotes display an abnormal endoderm layer composed of mostly dead cells with pyknotic nuclei and deteriorating blood vessels
• 6 of 24 mutant yolk sacs contain no blood, although blood is present in the heart and embryonic circulation

limbs/digits/tail
• by E11.5, all homozygotes exhibit both fore- and hindlimb abnormalities
• hindlimbs are always the more severely affected than forelimbs
• only digit one forms in homozygous mutant hindlimbs
• one fetus surviving to ~E16.5, exhibits a right forelimb with a shortened ulna and a left forelimb without an ulna
• ~70% of homozygotes display reduced hindlimb bud development by E9.5-E10.5; however, no major abnormalities are detected at E8.5
• ~70% of homozygotes display reduced hindlimb bud development by E9.5-E10.5; however, no major abnormalities are detected at E8.5
• at E10.5, homozygotes exhibit a thinner and anteroposteriorly less extensive AER in the forelimbs, and a severely reduced AER in the hindlimbs

liver/biliary system
• at E12.5, homozygotes exhibit a smaller liver relative to wild-type embryos

endocrine/exocrine glands
• homozygotes display failure of mammary bud induction at E12.5-E13.5 (J:82458)
• no mammary buds are detected at E12.5; only three buds out of an expected 20 are observed in two mutant embryos at E13.5 but these appear less organized relative to wild-type mammary buds (J:82458)
• homozygotes exhibit absence or reduction of mammary buds between E11.5 and E13.5 (J:82458)

skeleton
• one fetus surviving to ~E16.5, exhibits a right forelimb with a shortened ulna and a left forelimb without an ulna
• one fetus surviving to ~E16.5, exhibits a right forelimb with absent metacarpals and phalanges of the fifth digit, and absent phalanges of the fourth digiit; the left forelimb lacks an ulna and carpals as well as metacarpals and phalanges of the fourth and fifth digits
• rare homozygous fetuses that survive to E16.5 (2/35), display small, malformed pelvic bones

cardiovascular system
• 6 of 24 homozygotes show a reduction in yolk sac vasculature prior to E10.5
• 6 of 24 homozygotes exhibit small or absent yolk sac blood vessels prior to E10.5

integument
• homozygotes display failure of mammary bud induction at E12.5-E13.5 (J:82458)
• no mammary buds are detected at E12.5; only three buds out of an expected 20 are observed in two mutant embryos at E13.5 but these appear less organized relative to wild-type mammary buds (J:82458)
• homozygotes exhibit absence or reduction of mammary buds between E11.5 and E13.5 (J:82458)

Mouse Models of Human Disease
OMIM IDRef(s)
Ulnar-Mammary Syndrome; UMS 181450 J:82458