Analysis Tools
mortality/aging
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• 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
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embryo
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• 6 of 24 homozygotes show a reduction in yolk sac vasculature prior to E10.5
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• 6 of 24 homozygotes exhibit small or absent yolk sac blood vessels prior to E10.5
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• at E10.5, homozygotes exhibit a thinner and anteroposteriorly less extensive AER in the forelimbs, and a severely reduced AER in the hindlimbs
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• however, no major abnormalities are detected at E8.5
• ~70% of homozygotes display reduced hindlimb bud development by E9.5-E10.5
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• 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
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pale yolk sac
(
J:82458
)
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• 6 of 24 mutant yolk sacs contain no blood, although blood is present in the heart and embryonic circulation
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limbs/digits/tail
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• only digit one forms in homozygous mutant hindlimbs
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• by E11.5, all homozygotes exhibit forelimb abnormalities
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• one fetus surviving to ~E16.5, exhibits a right forelimb with a shortened ulna and a left forelimb without an ulna
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• by E11.5, all homozygotes exhibit hindlimb abnormalities
• hindlimbs are always the more severely affected than forelimbs
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• 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
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• at E10.5, homozygotes exhibit a thinner and anteroposteriorly less extensive AER in the forelimbs, and a severely reduced AER in the hindlimbs
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• ~70% of homozygotes display reduced hindlimb bud development by E9.5-E10.5
• however, no major abnormalities are detected at E8.5
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• by E11.5, homozygotes display irregularities in the hand plate and either little development or an aberrant shape to the foot plate that resembles a posterior deflection of the autopod
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liver/biliary system
small liver
(
J:82458
)
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• at E12.5, homozygotes exhibit a smaller liver relative to wild-type embryos
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endocrine/exocrine glands
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• homozygotes display failure of mammary bud induction at E12.5-E13.5
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• homozygotes exhibit absence or reduction of mammary buds between E11.5 and E13.5
• no mammary buds are detected at E12.5, although at E13.5 one of seven mutants displayed a single, small pair of mammary buds at the level corresponding to bud number 2, and a second mutant had a single, unilateral bud in a similar position; however, these appeared less organized relative to wild-type mammary buds
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skeleton
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• one fetus surviving to ~E16.5, exhibits a right forelimb with a shortened ulna and a left forelimb without an ulna
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• 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
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• rare homozygous fetuses that survive to E16.5 (2/35), display small, malformed pelvic bones
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cardiovascular system
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• 6 of 24 homozygotes show a reduction in yolk sac vasculature prior to E10.5
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• 6 of 24 homozygotes exhibit small or absent yolk sac blood vessels prior to E10.5
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integument
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• homozygotes display failure of mammary bud induction at E12.5-E13.5
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• homozygotes exhibit absence or reduction of mammary buds between E11.5 and E13.5
• no mammary buds are detected at E12.5, although at E13.5 one of seven mutants displayed a single, small pair of mammary buds at the level corresponding to bud number 2, and a second mutant had a single, unilateral bud in a similar position; however, these appeared less organized relative to wild-type mammary buds
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ulnar-mammary syndrome | DOID:0060614 |
OMIM:181450 |
J:82458 | |
