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Phenotypes Associated with This Genotype
Genotype
MGI:5444514
Allelic
Composition
Ikbkaptm1Id/Ikbkaptm1Id
Tg(Hsp70-1-cre)6Arge/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ikbkaptm1Id mutation (0 available); any Ikbkap mutation (9 available)
Tg(Hsp70-1-cre)6Arge mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• trimming litter size at birth allows 20% of mutants to survive postnatally (J:188923)
• 15 of 28 (54%) of mutants survive past 18 months of age, and 7 of these live up to 22-24 months of age with minor health problems (J:188923)
• trimming litter size at birth allows 20% of mutants to survive postnatally (J:188923)
• 15 of 28 (54%) of mutants survive past 18 months of age, and 7 of these live up to 22-24 months of age with minor health problems (J:188923)
• approximately 95% die perinatally (J:188923)
• trimming litter size at birth allows 20% of mutants to survive postnatally (J:188923)
• approximately 95% die perinatally (J:188923)
• trimming litter size at birth allows 20% of mutants to survive postnatally (J:188923)

growth/size/body
• mutants over 11 months of age have very little fat content (J:188923)
• mutants over 11 months of age have very little fat content (J:188923)
• mutants exhibit a reduction in the total number of fungiform papillae on the tongue at P18 compared with control littermates (J:188923)
• although fungiform papillae have a well-developed taste bud, their distribution, especially in the anterior portion of the tongue, is more sparse, and some of them do not appear healthy and are smaller than in controls (J:188923)
• mutants exhibit a reduction in the total number of fungiform papillae on the tongue at P18 compared with control littermates (J:188923)
• although fungiform papillae have a well-developed taste bud, their distribution, especially in the anterior portion of the tongue, is more sparse, and some of them do not appear healthy and are smaller than in controls (J:188923)
• mutants weigh 70-80% the weight of control littermates at P21 (J:188923)
• mutants over 11 months of age also display low body weight (J:188923)
• mutants weigh 70-80% the weight of control littermates at P21 (J:188923)
• mutants over 11 months of age also display low body weight (J:188923)
• mutants over 11 months of age are short in length (about 85-90% the length of control littermates) (J:188923)
• mutants over 11 months of age are short in length (about 85-90% the length of control littermates) (J:188923)
• postnatal growth is compromised, with mutants 70-80% the weight of control littermates at P21 (J:188923)
• postnatal growth is compromised, with mutants 70-80% the weight of control littermates at P21 (J:188923)
• starting at mid-gestation, embryos have a reduced growth rate (J:188923)
• starting at mid-gestation, embryos have a reduced growth rate (J:188923)

behavior/neurological
• poor sucking and uncoordinated swallow at birth (J:188923)
• poor sucking and uncoordinated swallow at birth (J:188923)
• adult mutants exhibit self-inflicted wounds from frequent scratching (J:188923)
• adult mutants exhibit self-inflicted wounds from frequent scratching (J:188923)
• adult mutants exhibit excessive grooming (J:188923)
• adult mutants exhibit excessive grooming (J:188923)
• hindlimb clasping on tail suspension in mutants surviving to adulthood (J:188923)
• hindlimb clasping on tail suspension in mutants surviving to adulthood (J:188923)
• ataxic gait in mutants surviving to adulthood (J:188923)
• ataxic gait in mutants surviving to adulthood (J:188923)
• mutants surviving to adulthood exhibit an abnormal postural behavior (sitting-up) not observed in controls, most likely to compensate for the kyphoscoliosis (J:188923)
• mutants surviving to adulthood exhibit an abnormal postural behavior (sitting-up) not observed in controls, most likely to compensate for the kyphoscoliosis (J:188923)
• mutants exhibit decreased temperature perception, with mutants staying on a hot plate at higher temperatures than controls (J:188923)
• however, the discomfort caused by temperature perception tests leads to an exaggerated nocifensive response in mutants, with mutants jumping high multiple times and this behavior persists after the noxious stimulus has ceased, unlike in controls, indicating that while mutants show decreased temperature perception, they show exaggerated responses once they feel the pain (J:188923)
• mutants exhibit decreased temperature perception, with mutants staying on a hot plate at higher temperatures than controls (J:188923)
• however, the discomfort caused by temperature perception tests leads to an exaggerated nocifensive response in mutants, with mutants jumping high multiple times and this behavior persists after the noxious stimulus has ceased, unlike in controls, indicating that while mutants show decreased temperature perception, they show exaggerated responses once they feel the pain (J:188923)
• handling-induced seizures in mutants surviving to adulthood (J:188923)
• handling-induced seizures in mutants surviving to adulthood (J:188923)
• startling noise induced seizures in mutants that survive to adulthood (J:188923)
• startling noise induced seizures in mutants that survive to adulthood (J:188923)

digestive/alimentary system
• mutants exhibit a reduction in the total number of fungiform papillae on the tongue at P18 compared with control littermates (J:188923)
• although fungiform papillae have a well-developed taste bud, their distribution, especially in the anterior portion of the tongue, is more sparse, and some of them do not appear healthy and are smaller than in controls (J:188923)
• mutants exhibit a reduction in the total number of fungiform papillae on the tongue at P18 compared with control littermates (J:188923)
• although fungiform papillae have a well-developed taste bud, their distribution, especially in the anterior portion of the tongue, is more sparse, and some of them do not appear healthy and are smaller than in controls (J:188923)
• mutant pups exhibit bubbles of air in their intestines at P18 indicating intestinal dysfunction (J:188923)
• mutant pups exhibit bubbles of air in their intestines at P18 indicating intestinal dysfunction (J:188923)

embryogenesis
• placenta growth is impaired, averaging 75% the size of wild-type placenta in embryos from mid-gestation onwards (J:188923)
• placenta growth is impaired, averaging 75% the size of wild-type placenta in embryos from mid-gestation onwards (J:188923)

adipose tissue
• mutants over 11 months of age have very little fat content (J:188923)
• mutants over 11 months of age have very little fat content (J:188923)

craniofacial
• mutants exhibit a reduction in the total number of fungiform papillae on the tongue at P18 compared with control littermates (J:188923)
• although fungiform papillae have a well-developed taste bud, their distribution, especially in the anterior portion of the tongue, is more sparse, and some of them do not appear healthy and are smaller than in controls (J:188923)
• mutants exhibit a reduction in the total number of fungiform papillae on the tongue at P18 compared with control littermates (J:188923)
• although fungiform papillae have a well-developed taste bud, their distribution, especially in the anterior portion of the tongue, is more sparse, and some of them do not appear healthy and are smaller than in controls (J:188923)

immune system
• 40% of mutants exhibit blepharoptosis and conjunctivitis with increasing age (J:188923)
• 40% of mutants exhibit blepharoptosis and conjunctivitis with increasing age (J:188923)

nervous system
• handling-induced seizures in mutants surviving to adulthood (J:188923)
• handling-induced seizures in mutants surviving to adulthood (J:188923)
• startling noise induced seizures in mutants that survive to adulthood (J:188923)
• startling noise induced seizures in mutants that survive to adulthood (J:188923)
• muscle spindles appear to develop normally but exhibit significantly reduced primary sensory afferent innervation (J:188923)
• muscle spindles appear to develop normally but exhibit significantly reduced primary sensory afferent innervation (J:188923)
• decrease in volume of sympathetic ganglia at birth (70% of controls) (J:188923)
• decrease in volume of sympathetic ganglia at birth (70% of controls) (J:188923)
• at E18.5, fetuses show a significant reduction in the volume of stellate ganglia compared to controls (J:188923)
• at E18.5, fetuses show a significant reduction in the volume of stellate ganglia compared to controls (J:188923)
• at E18.5, fetuses show a significant reduction in the volume of superior cervical sympathetic ganglia (SCG) compared to controls (J:188923)
• at P21, total volume of SCG is about 80% the volume of controls and neuronal cells are less densely packed (J:188923)
• by 10 months of age, both volume and neuronal density of sCGs are significantly reduced, with the volume of SCG being as low as 30% of controls (J:188923)
• however, localization and differentiation of sympathetic neurons in superior cervical, stellate, and celiac ganglia are normal (J:188923)
• at E18.5, fetuses show a significant reduction in the volume of superior cervical sympathetic ganglia (SCG) compared to controls (J:188923)
• at P21, total volume of SCG is about 80% the volume of controls and neuronal cells are less densely packed (J:188923)
• by 10 months of age, both volume and neuronal density of sCGs are significantly reduced, with the volume of SCG being as low as 30% of controls (J:188923)
• however, localization and differentiation of sympathetic neurons in superior cervical, stellate, and celiac ganglia are normal (J:188923)
• muscle spindles exhibit significantly reduced primary sensory afferent innervation (J:188923)
• muscle spindles exhibit significantly reduced primary sensory afferent innervation (J:188923)
• decrease in the convergence of retinal ganglion cells to the optic nerve in 22 month old mutants (J:188923)
• decrease in the convergence of retinal ganglion cells to the optic nerve in 22 month old mutants (J:188923)
• urine retention/neurogenic bladder (bladder distension) and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)
• urine retention/neurogenic bladder (bladder distension) and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)
• the optic nerve head is excavated in 22 month old mutants and the retinal ganglion cell layer appears thinner (J:188923)
• the optic nerve head is excavated in 22 month old mutants and the retinal ganglion cell layer appears thinner (J:188923)
• decrease in volume of the dorsal root ganglion (70% of controls) (J:188923)
• decrease in volume of the dorsal root ganglion (70% of controls) (J:188923)
• mutants exhibit a small but significant decrease in the relative proportion of small dark B cells in lumbar dorsal root ganglia at 18 months of age (J:188923)
• mutants exhibit a small but significant decrease in the relative proportion of small dark B cells in lumbar dorsal root ganglia at 18 months of age (J:188923)
• with increasing age, mutants exhibit phenotypes related to dysautonomia (J:188923)
• with increasing age, mutants exhibit phenotypes related to dysautonomia (J:188923)

renal/urinary system
• urine retention/neurogenic bladder (bladder distension) and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)
• urine retention/neurogenic bladder (bladder distension) and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)
• urine retention/neurogenic bladder and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)
• urine retention/neurogenic bladder and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)
• urine retention/neurogenic bladder (bladder distension) and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)
• urine retention/neurogenic bladder (bladder distension) and/or hydronephrosis is seen in 2 out of 3 adult males starting at 11 months of age, with partial or complete destruction of one of the kidneys in some (J:188923)

skeleton
• 75% of mutants surviving to adulthood develop skeletal abnormalities, mostly kyphosis or kyphoscoliosis that worsens over time (J:188923)
• 75% of mutants surviving to adulthood develop skeletal abnormalities, mostly kyphosis or kyphoscoliosis that worsens over time (J:188923)

vision/eye
• 40% of mutants exhibit blepharoptosis and conjunctivitis with increasing age (J:188923)
• 40% of mutants exhibit blepharoptosis and conjunctivitis with increasing age (J:188923)
• decrease in the convergence of retinal ganglion cells to the optic nerve in 22 month old mutants (J:188923)
• decrease in the convergence of retinal ganglion cells to the optic nerve in 22 month old mutants (J:188923)
• the optic nerve head is excavated in 22 month old mutants and the retinal ganglion cell layer appears thinner (J:188923)
• the optic nerve head is excavated in 22 month old mutants and the retinal ganglion cell layer appears thinner (J:188923)
• 40% of mutants exhibit blepharoptosis and conjunctivitis with increasing age (J:188923)
• 40% of mutants exhibit blepharoptosis and conjunctivitis with increasing age (J:188923)
• seen in 22 month old mutants (J:188923)
• seen in 22 month old mutants (J:188923)

muscle
• muscle spindles appear to develop normally but exhibit significantly reduced primary sensory afferent innervation (J:188923)
• muscle spindles appear to develop normally but exhibit significantly reduced primary sensory afferent innervation (J:188923)

integument
• mutants exhibit decreased temperature perception, with mutants staying on a hot plate at higher temperatures than controls (J:188923)
• however, the discomfort caused by temperature perception tests leads to an exaggerated nocifensive response in mutants, with mutants jumping high multiple times and this behavior persists after the noxious stimulus has ceased, unlike in controls, indicating that while mutants show decreased temperature perception, they show exaggerated responses once they feel the pain (J:188923)
• mutants exhibit decreased temperature perception, with mutants staying on a hot plate at higher temperatures than controls (J:188923)
• however, the discomfort caused by temperature perception tests leads to an exaggerated nocifensive response in mutants, with mutants jumping high multiple times and this behavior persists after the noxious stimulus has ceased, unlike in controls, indicating that while mutants show decreased temperature perception, they show exaggerated responses once they feel the pain (J:188923)


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory