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Hoxa5tm1Rob
Targeted Allele Detail
Summary
Symbol: Hoxa5tm1Rob
Name: homeobox A5; targeted mutation 1, Elizabeth J Robertson
MGI ID: MGI:2150397
Synonyms: Hoxa5-
Gene: Hoxa5  Location: Chr6:52178768-52181437 bp, - strand  Genetic Position: Chr6, 25.4 cM
Alliance: Hoxa5tm1Rob page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:15576
Parent Cell Line:  CCE/EK.CCE (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsInsertion of a neomycin resistance cassette into exon 2 disrupted sequences that encode the DNA binding homeodomain. Northern analysis using an exon 2 probe detected novel transcripts and no wild-type transcripts in lung and kidney of homozygous mutant mice. (J:71563)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
Allelic CompositionGenetic BackgroundCell Line(s)
 
 
involves: 129S/SvEv * C57BL/6 * MF1
 
involves: 129S/SvEv * MF1
 
involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * MF1
 
involves: 129S/SvEv * 129S7/SvEvBrd
 
involves: 129S/SvEv * 129S7/SvEvBrd
 
Phenotypes:
Affected Systems
show or hide all annotated terms Sex:
           
cellular
abnormal cell migration
craniofacial
delayed ear emergence
digestive/alimentary system
abnormal digestive secretion
meteorism
endocrine/exocrine glands
abnormal thyroid gland development
ovary cyst
growth/size/body
delayed ear emergence
meteorism
ovary cyst
postnatal growth retardation
hearing/vestibular/ear
delayed ear emergence
hematopoietic system
abnormal alveolar macrophage morphology
homeostasis/metabolism
increased circulating estradiol level
increased circulating thyroid-stimulating hormone level
cyanosis
immune system
abnormal alveolar macrophage morphology
lung inflammation
mortality/aging
neonatal lethality, incomplete penetrance
postnatal lethality, incomplete penetrance
reproductive system
ovary cyst
early sexual maturation
abnormal estrous cycle
prolonged diestrus
short estrus
prolonged metestrus
prolonged estrous cycle
respiratory system
lung inflammation
abnormal larynx morphology
abnormal cricoid cartilage morphology
abnormal branching involved in lung morphogenesis
impaired branching involved in bronchus morphogenesis
impaired branching involved in respiratory bronchiole morphogenesis
impaired lung alveolus development
abnormal lung saccule morphology
abnormal bronchus epithelium morphology
abnormal lung weight
abnormal pulmonary acinus morphology
abnormal pulmonary alveolus morphology
increased type II pneumocyte number
atelectasis
overexpanded pulmonary alveolus
abnormal pulmonary interalveolar septum morphology
thick pulmonary interalveolar septum
emphysema
abnormal pulmonary alveolar parenchyma morphology
abnormal alveolar macrophage morphology
abnormal pulmonary elastic fiber morphology
abnormal bronchiole morphology
abnormal bronchiole epithelium morphology
abnormal respiratory mucosa goblet cell morphology
increased respiratory mucosa goblet cell number
abnormal trachea morphology
abnormal tracheal cartilage morphology
cricoid and tracheal cartilage fusion
decreased tracheal cartilage ring number
trachea occlusion
trachea stenosis
respiratory distress
abnormal surfactant secretion
decreased surfactant secretion
skeleton
abnormal skeleton morphology
abnormal tracheal cartilage morphology
decreased tracheal cartilage ring number
abnormal axial skeleton morphology
increased sternebra number
sternebra fusion
absent sternal manubrium
short sternum
abnormal rib joint morphology
asymmetric sternocostal joints
abnormal rib morphology
abnormal rib development
decreased rib number
increased rib number
rib fusion
small thoracic cage
abnormal intervertebral disk morphology
abnormal cricoid cartilage morphology
cricoid and tracheal cartilage fusion
abnormal vertebrae morphology
cervical vertebral fusion
vertebral transformation
thoracic vertebral transformation
cervical vertebral transformation
lumbar vertebral transformation
vision/eye
delayed eyelid opening
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 217 assay results
In Structures Affected by this Mutation: 23 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Hoxa5tm1Rob
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hoxa5 Mutation:  28 strains or lines available
References
Original:  J:15576 Jeannotte L, et al., Specification of axial identity in the mouse: role of the Hoxa-5 (Hox1.3) gene. Genes Dev. 1993 Nov;7(11):2085-96
All:  27 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory