Col27a1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Col27a1
collagen, type XXVII, alpha 1
MGI:2672118

46 phenotypes from 3 alleles in 3 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Col27a1^em1(IMPC)Mbp/Col27a1⁺ C57BL/6N-Col27a1^em1(IMPC)Mbp/MbpMmucd	abnormal kidney morphology	J:211773
	abnormal placenta morphology	J:211773
	abnormal placenta vasculature	J:211773
	abnormal retina morphology	J:211773
	abnormal spleen morphology	J:211773
	blind uterus	J:211773
	edema	J:211773
	enlarged kidney	J:211773
	enlarged spleen	J:211773
	increased bone mineral density	J:211773
	small spleen	J:211773
Col27a1^em1(IMPC)Mbp/Col27a1^em1(IMPC)Mbp C57BL/6N-Col27a1^em1(IMPC)Mbp/MbpMmucd	abnormal blood vessel morphology	J:211773
	abnormal craniofacial morphology	J:211773
	abnormal facial morphology	J:211773
	abnormal placenta morphology	J:211773
	abnormal placenta vasculature	J:211773
	cleft palate	J:211773
	edema	J:211773
	embryonic growth retardation	J:211773
	hemorrhage	J:211773
	pale liver	J:211773
	preweaning lethality, complete penetrance	J:211773
Col27a1^tm1.1Rpbh/Col27a1^tm1.1Rpbh involves: 129S1/Sv * 129X1/SvJ	abnormal long bone epiphyseal plate proliferative zone	J:182341
	sternebra fusion	J:182341
Col27a1^tm1.1Rpbh/Col27a1^tm1.1Rpbh Tg(Col2a1-cre)1Asz/0 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	abnormal epiphyseal plate morphology	J:182341
	abnormal long bone epiphyseal plate proliferative zone	J:182341
	abnormal pelvic girdle bone morphology	J:182341
	abnormal thoracic cage shape	J:182341
	decreased body size	J:182341
	decreased body weight	J:182341
	decreased length of long bones	J:182341
	domed cranium	J:182341
	kyphosis	J:182341
	normal reproductive system phenotype	J:182341
	normal respiratory system phenotype	J:182341
	short snout	J:182341
Col27a1^tm1.2Rpbh/Col27a1^tm1.2Rpbh involves: 129S1/Sv * 129X1/SvJ	abnormal chondrocyte morphology	J:182341
	abnormal chondrocyte physiology	J:182341
	abnormal epiphyseal plate morphology	J:182341
	abnormal long bone epiphyseal plate proliferative zone	J:182341
	abnormal lung morphology	J:182341
	abnormal pulmonary alveolar sac morphology	J:182341
	abnormal skeleton morphology	J:182341
	chondrodystrophy	J:182341
	decreased fetal size	J:182341
	decreased length of long bones	J:182341
	domed cranium	J:182341
	mandibular retrognathia	J:182341
	neonatal lethality, complete penetrance	J:182341
	respiratory failure	J:182341
	short limbs	J:182341
	short sternum	J:182341
	split xiphoid process	J:182341
	sternebra fusion	J:182341
	umbilical hernia	J:182341

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